2-239007008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007008
    reference: chr 2
allele count: 3
allele frequency: 3.727171077152441e-5
allele num: 80490
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*12C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*12C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*12C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*12C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4623C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1500C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-863C>T
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15354
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21355
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-239007012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007012
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007012
    reference: chr 2
allele count: 3
allele frequency: 3.821850794944965e-5
allele num: 78496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4627C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1504C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*16C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*150C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-859C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22395
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-239007018-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007018
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007018
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 75468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1510C>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*22C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-853C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*156C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*22C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*22C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*22C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4633C>A
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23068
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5449
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-239007019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007019
    reference: chr 2
allele count: 22
allele frequency: 2.931769722814499e-4
allele num: 75040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*23C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*23C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*23C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1511C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*157C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4634C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-852C>T
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23154
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/2-239007020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007020
    reference: chr 2
allele count: 14
allele frequency: 1.881012522169076e-4
allele num: 74428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*24C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*24C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*24C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1512C>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*24C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*158C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-851C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4635C>A
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23294
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27699
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

2-239007020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007020
    reference: chr 2
allele count: 6
allele frequency: 8.061482237867469e-5
allele num: 74428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-851C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*24C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1512C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*24C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*24C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4635C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*158C>T
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23294
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-239007021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007021
    reference: chr 2
allele count: 4
allele frequency: 5.414624901859924e-5
allele num: 73874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*159G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1513G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*25G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*25G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*25G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4636G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-850G>A
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23332
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-239007021-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007021
    reference: chr 2
allele count: 2
allele frequency: 2.707312450929962e-5
allele num: 73874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*25G>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*25G>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1513G>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*25G>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*25G>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*159G>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4636G>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-850G>C
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23332
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-239007022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007022
    reference: chr 2
allele count: 2295
allele frequency: 3.130712356423758e-2
allele num: 73306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*26C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4637C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-849C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*26C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1514C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*26C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*26C>T
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 1.75e1
  variant carriers: 714
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 2.75e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 2.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16979
  bin: 7.5e0
  variant carriers: 374
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 2.25e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 23332
  bin: 1.25e1
  variant carriers: 758
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 2.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 9.75e1
  variant carriers: 2186
genotype quality: GenotypeQuality
  all individuals: 5254
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 5971
  bin: 6.25e1
  variant carriers: 41
num of homozygotes: 42
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-239007024-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007024
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007024
    reference: chr 2
allele count: 1
allele frequency: 1.386962552011096e-5
allele num: 72100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*162T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*28T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4639T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*28T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1516T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*28T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-847T>C
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23886
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-239007032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007032
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007032
    reference: chr 2
allele count: 1
allele frequency: 1.519987840097279e-5
allele num: 65790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*36G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1524G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*36G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*36G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-839G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*36G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4647G>A
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22349
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-239007040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007040
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007040
    reference: chr 2
allele count: 1
allele frequency: 1.727414061150458e-5
allele num: 57890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*44C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*178C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1532C>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-831C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*44C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*44C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*44C>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4655C>A
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19462
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4744
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

2-239007047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007047
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007047
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 54176
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*51C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000416865
  ensembl transcript: ENST00000422984
  gene symbol: SCLY
  hgvsc: ENST00000422984.2:c.*51C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000393694
  ensembl transcript: ENST00000429612
  gene symbol: SCLY
  hgvsc: ENST00000429612.2:c.*51C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*1539C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-824C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*185C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.4662C>T
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23394
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10065
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5038
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

2-239007828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007828
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007828
    reference: chr 2
allele count: 1
allele frequency: 5.743825387708214e-5
allele num: 17410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-43C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*832C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*966C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*832C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5443C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2320C>T
  variant of: http://identifiers.org/hgnc/48339
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-239007829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007829
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007829
    reference: chr 2
allele count: 4
allele frequency: 2.281542322610084e-4
allele num: 17532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*833G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*833G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-42G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*967G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5444G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2321G>A
  variant of: http://identifiers.org/hgnc/48339
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-239007847-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007847
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007847
    reference: chr 2
allele count: 1
allele frequency: 5.58909009613235e-5
allele num: 17892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-24C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*851C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*851C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*985C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2339C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5462C>G
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

2-239007850-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007850
    reference: chr 2
allele count: 8835
allele frequency: 4.803719008264463e-1
allele num: 18392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*988T>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2342T>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-21T>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*854T>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5465T>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*854T>A
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.5e0
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 2.25e1
  variant carriers: 880
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 615
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 971
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 1030
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 9.75e1
  variant carriers: 1030
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 267
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 591
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 6.25e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 5984
  bin: 9.75e1
  variant carriers: 5509
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.25e1
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.5e0
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 33
num of homozygotes: 2196
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

2-239007868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007868
    reference: chr 2
allele count: 26
allele frequency: 1.41735717400785e-3
allele num: 18344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1006C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*872C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.631-3C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2360C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*872C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5483C>T
  variant of: http://identifiers.org/hgnc/18161
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
hgvs: c.631-3C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-239007905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007905
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007905
    reference: chr 2
allele count: 3
allele frequency: 1.640958319658681e-4
allele num: 18282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5520C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*909C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.665C>T
  hgvsp: ENSP00000404444.1:p.His223Tyr
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*909C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1043C>T
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2397C>T
  variant of: http://identifiers.org/hgnc/48339
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His223Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-239007920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007920
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007920
    reference: chr 2
allele count: 48
allele frequency: 2.644336712208021e-3
allele num: 18152
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*924G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.680G>A
  hgvsp: ENSP00000404444.1:p.Asp228Asn
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1058G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2412G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5535G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*924G>A
  variant of: http://identifiers.org/hgnc/18161
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp228Asn
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS

2-239007930-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007930
    reference: chr 2
allele count: 1
allele frequency: 5.538325210456358e-5
allele num: 18056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2422T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1068T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*934T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.690T>C
  hgvsp: ENSP00000404444.1:p.Ile231Thr
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*934T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5545T>C
  variant of: http://identifiers.org/hgnc/18161
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile231Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-239007944-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007944
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007944
    reference: chr 2
allele count: 3
allele frequency: 1.67973124300112e-4
allele num: 17860
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*948A>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5559A>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1082A>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2436A>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.704A>C
  hgvsp: ENSP00000404444.1:p.Ser236Arg
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*948A>C
  variant of: http://identifiers.org/hgnc/18161
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser236Arg
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-239007960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007960
    reference: chr 2
allele count: 1
allele frequency: 5.689576695493855e-5
allele num: 17576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2452T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.720T>C
  hgvsp: ENSP00000404444.1:p.Leu241Ser
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*964T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*964T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5575T>C
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1098T>C
  variant of: http://identifiers.org/hgnc/18161
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu241Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-239007976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007976
    reference: chr 2
allele count: 2
allele frequency: 1.152737752161383e-4
allele num: 17350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.736G>A
  hgvsp: ENST00000437134.1:c.736G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*980G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5591G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1114G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2468G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*980G>A
  variant of: http://identifiers.org/hgnc/18161
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr246Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

2-239007991-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007991
    reference: chr 2
allele count: 8346
allele frequency: 4.845001741553466e-1
allele num: 17226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1129T>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5606T>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.751T>A
  hgvsp: ENST00000437134.1:c.751T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*995T>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2483T>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*995T>A
  variant of: http://identifiers.org/hgnc/18161
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 510
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 1154
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.75e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.25e1
  variant carriers: 522
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 689
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.5e0
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 595
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 6.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 6.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 2
hgvs: p.Thr251Thr
num of homozygotes: 2098
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-239007997-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239007997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239007997
    reference: chr 2
allele count: 1213
allele frequency: 7.235743259365307e-2
allele num: 16764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5612A>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2489A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1135A>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*1001A>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000404444
  ensembl transcript: ENST00000437134
  gene symbol: SCLY
  hgvsc: ENST00000437134.1:c.*3A>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*1001A>G
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 6
num of homozygotes: 64
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-239008016-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239008016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239008016
    reference: chr 2
allele count: 1
allele frequency: 6.171315724512466e-5
allele num: 16204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1154C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5631C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*1020C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2508C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*1020C>G
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

2-239008022-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239008022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239008022
    reference: chr 2
allele count: 1
allele frequency: 6.221226825930074e-5
allele num: 16074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2514C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5637C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*1026C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1160C>G
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*1026C>G
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-239008032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239008032
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239008032
    reference: chr 2
allele count: 2
allele frequency: 1.261829652996846e-4
allele num: 15850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000414053
  ensembl transcript: ENST00000450965
  gene symbol: SCLY
  hgvsc: ENST00000450965.1:c.*1170G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000450613
  ensembl transcript: ENST00000555827
  gene symbol: SCLY
  hgvsc: ENST00000555827.1:c.*1036G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*2524G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132330
  ensembl protein: ENSP00000254663
  ensembl transcript: ENST00000254663
  gene symbol: SCLY
  hgvsc: ENST00000254663.6:c.*1036G>A
  variant of: http://identifiers.org/hgnc/18161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132330
  ensembl transcript: ENST00000480357
  gene symbol: SCLY
  hgvsc: ENST00000480357.1:n.5647G>A
  variant of: http://identifiers.org/hgnc/18161
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-239009019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009019
    reference: chr 2
allele count: 4
allele frequency: 8.948946261577699e-5
allele num: 44698
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-42C>T
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23554
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 1.25e1
  variant carriers: 2
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: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  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 quality: GenotypeQuality
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17893
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3844
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7576
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3756
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-239009020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009020
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 44836
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-41C>T
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  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: 13404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23680
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.75e1
  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: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3870
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1798
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7592
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-239009030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009030
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009030
    reference: chr 2
allele count: 1
allele frequency: 2.153872663048161e-5
allele num: 46428
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-31A>G
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7890
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1904
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1090
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

2-239009033-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009033
    reference: chr 2
allele count: 12
allele frequency: 2.561694133720434e-4
allele num: 46844
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-28A>T
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  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
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7944
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3898
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1108
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-239009036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009036
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 47300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-25C>T
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1118
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population: East Asian
  type: Population
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  allele num: 3914
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population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7998
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-239009037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009037
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009037
    reference: chr 2
allele count: 156
allele frequency: 3.267836943315598e-3
allele num: 47738
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-24G>A
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8096
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population: European (Non-Finnish)
  type: Population
  allele count: 146
  allele frequency: 5.180244110133409e-3
  allele num: 28184
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 3
  allele frequency: 2.631578947368421e-3
  allele num: 1140
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-239009045-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009045
    reference: chr 2
allele count: 15
allele frequency: 2.938871473354232e-4
allele num: 51040
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-16G>C
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13111
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 312
  num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 7.029053420805998e-4
  allele num: 4268
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 3
  allele frequency: 1.314636283961437e-3
  allele num: 2282
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-239009050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009050
    reference: chr 2
allele count: 3
allele frequency: 5.6471651231082e-5
allele num: 53124
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-11C>T
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14866
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
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  allele num: 4350
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population: East Asian
  type: Population
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  allele num: 4286
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population: European (Non-Finnish)
  type: Population
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  allele frequency: 0.0e0
  allele num: 31384
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-239009051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009051
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009051
    reference: chr 2
allele count: 9
allele frequency: 1.66469369635987e-4
allele num: 54064
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-10G>A
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
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population: Latino
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population: African
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  allele num: 4416
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-239009054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009054
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009054
    reference: chr 2
allele count: 1
allele frequency: 1.793078716155639e-5
allele num: 55770
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-7C>T
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
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population: South Asian
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population: African
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  allele num: 4504
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-239009055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009055
    reference: chr 2
allele count: 2
allele frequency: 3.54421407052986e-5
allele num: 56430
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-6C>T
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3008
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1424
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9552
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 4.420866489832007e-4
  allele num: 4524
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

2-239009060-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009060
    reference: chr 2
allele count: 2
allele frequency: 3.36337952374546e-5
allele num: 59464
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.-1G>T
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  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: 5960
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4692
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 366
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 6.476683937823834e-4
  allele num: 3088
  num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-239009070-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009070
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009070
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 62552
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.10C>A
  hgvsp: ENSP00000339115.3:p.Gln4Lys
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.10C>A
  hgvsp: ENSP00000386577.1:p.Gln4Lys
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: AC_Adj0_Filter
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: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  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: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln4Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4834
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-239009074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009074
    reference: chr 2
allele count: 660
allele frequency: 1.019588457022802e-2
allele num: 64732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.14G>A
  hgvsp: ENSP00000386577.1:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.14G>A
  hgvsp: ENSP00000339115.3:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 1.25e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 22839
  bin: 7.5e0
  variant carriers: 99
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 20966
  bin: 2.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 441
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
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  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 333
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genotype quality: GenotypeQuality
  all individuals: 832
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 564
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.75e1
  variant carriers: 12
hgvs: p.Arg5Gln
num of homozygotes: 21
population: European (Non-Finnish)
  type: Population
  allele count: 33
  allele frequency: 8.640100539351731e-4
  allele num: 38194
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-239009081-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009081
    reference: chr 2
allele count: 2
allele frequency: 3.020600495378481e-5
allele num: 66212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.21C>A
  hgvsp: ENST00000343063.3:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.21C>A
  hgvsp: ENST00000409169.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu7Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4070
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-239009081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009081
    reference: chr 2
allele count: 5
allele frequency: 7.551501238446202e-5
allele num: 66212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.21C>T
  hgvsp: ENST00000409169.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.21C>T
  hgvsp: ENST00000343063.3:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
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  variant carriers: 1
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: 510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  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 quality: GenotypeQuality
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu7Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 3.825554705432288e-4
  allele num: 5228
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-239009082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009082
    reference: chr 2
allele count: 80
allele frequency: 1.194636083982917e-3
allele num: 66966
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.22G>A
  hgvsp: ENSP00000339115.3:p.Val8Met
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.22G>A
  hgvsp: ENSP00000386577.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21911
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  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 506
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 241
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genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 325
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1695
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 686
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22588
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 23624
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genotype quality: GenotypeQuality
  all individuals: 635
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Val8Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 37
  allele frequency: 9.346266545417803e-4
  allele num: 39588
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-239009087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009087
    reference: chr 2
allele count: 29
allele frequency: 4.22876141036484e-4
allele num: 68578
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.27C>T
  hgvsp: ENST00000343063.3:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.27C>T
  hgvsp: ENST00000409169.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22458
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21710
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  variant carriers: 5
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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1393
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 531
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 236
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 2
hgvs: p.Ala9Ala
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1888
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

2-239009088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009088
    reference: chr 2
allele count: 4
allele frequency: 5.829714052525724e-5
allele num: 68614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.28G>A
  hgvsp: ENSP00000386577.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.28G>A
  hgvsp: ENSP00000339115.3:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  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: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
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genotype depth: GenotypeDepth
  all individuals: 612
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 586
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3918
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Ala10Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10934
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-239009094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009094
    reference: chr 2
allele count: 2
allele frequency: 2.842443364315966e-5
allele num: 70362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.34G>A
  hgvsp: ENSP00000339115.3:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.34G>A
  hgvsp: ENSP00000386577.1:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21173
  bin: 7.5e0
  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp12Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11096
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-239009099-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009099
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009099
    reference: chr 2
allele count: 1
allele frequency: 1.412549086080741e-5
allele num: 70794
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.39G>T
  hgvsp: ENST00000343063.3:c.39G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.39G>T
  hgvsp: ENST00000409169.1:c.39G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gly13Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5484
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-239009103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009103
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009103
    reference: chr 2
allele count: 2
allele frequency: 2.83149757906957e-5
allele num: 70634
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.43G>A
  hgvsp: ENSP00000339115.3:p.Val15Met
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.43G>A
  hgvsp: ENSP00000386577.1:p.Val15Met
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Val15Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1996
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

2-239009107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009107
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009107
    reference: chr 2
allele count: 3
allele frequency: 4.283022100394038e-5
allele num: 70044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.47C>T
  hgvsp: ENSP00000386577.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.47C>T
  hgvsp: ENSP00000339115.3:p.Ala16Val
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ala16Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4678
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

2-239009108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009108
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009108
    reference: chr 2
allele count: 9
allele frequency: 1.286780475250922e-4
allele num: 69942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.48G>A
  hgvsp: ENST00000409169.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.48G>A
  hgvsp: ENST00000343063.3:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4143
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4377
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Ala16Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5410
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

2-239009110-CGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009110
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009107
    reference: chr 2
allele count: 1
allele frequency: 1.436038830489976e-5
allele num: 69636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.52_54delTTG
  hgvsp: ENSP00000386577.1:p.Leu18del
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.52_54delTTG
  hgvsp: ENSP00000339115.3:p.Leu18del
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 20774
  bin: 7.5e0
  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: 6645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 620
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genotype quality: GenotypeQuality
  all individuals: 23324
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 324
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23292
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu18del
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5154
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: CGTT
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-239009111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009111
    reference: chr 2
allele count: 3
allele frequency: 4.315304948216341e-5
allele num: 69520
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.51G>A
  hgvsp: ENST00000343063.3:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.51G>A
  hgvsp: ENST00000409169.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5843
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 2.5e0
  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: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20029
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  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: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
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genotype quality: GenotypeQuality
  all individuals: 1608
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genotype quality: GenotypeQuality
  all individuals: 23409
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 343
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr17Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1956
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-239009115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009115
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009115
    reference: chr 2
allele count: 1
allele frequency: 1.472754050073638e-5
allele num: 67900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.55G>A
  hgvsp: ENSP00000339115.3:p.Glu19Lys
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.55G>A
  hgvsp: ENSP00000386577.1:p.Glu19Lys
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu19Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5176
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-239009118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009118
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009118
    reference: chr 2
allele count: 40
allele frequency: 5.985156811108451e-4
allele num: 66832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.58C>T
  hgvsp: ENSP00000386577.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.58C>T
  hgvsp: ENSP00000339115.3:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 2.5e0
  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
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 20771
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg20Trp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 26
  allele frequency: 6.634006940191876e-4
  allele num: 39192
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

2-239009119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009119
    reference: chr 2
allele count: 1
allele frequency: 1.555113212241851e-5
allele num: 64304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.59G>A
  hgvsp: ENSP00000386577.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.59G>A
  hgvsp: ENSP00000339115.3:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  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: 5683
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg20Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10880
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-239009126-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009126
    reference: chr 2
allele count: 2
allele frequency: 3.167263167896621e-5
allele num: 63146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.66G>T
  hgvsp: ENST00000409169.1:c.66G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.66G>T
  hgvsp: ENST00000343063.3:c.66G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 452
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 2
hgvs: p.Leu22Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1650
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-239009127-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009127
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009127
    reference: chr 2
allele count: 1
allele frequency: 1.581827960391028e-5
allele num: 63218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.67G>C
  hgvsp: ENSP00000386577.1:p.Glu23Gln
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.67G>C
  hgvsp: ENSP00000339115.3:p.Glu23Gln
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21617
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
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  variant carriers: 0
hgvs: p.Glu23Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 388
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

2-239009133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009133
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009133
    reference: chr 2
allele count: 11
allele frequency: 1.803396944061906e-4
allele num: 60996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.73G>A
  hgvsp: ENSP00000339115.3:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.73G>A
  hgvsp: ENSP00000386577.1:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
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  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly25Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4458
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-239009136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009136
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009136
    reference: chr 2
allele count: 6
allele frequency: 1.00130169219986e-4
allele num: 59922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.76G>A
  hgvsp: ENSP00000386577.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.76G>A
  hgvsp: ENSP00000339115.3:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 137
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala26Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3658
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-239009143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009143
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009143
    reference: chr 2
allele count: 2
allele frequency: 3.413668327985253e-5
allele num: 58588
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.83G>A
  hgvsp: ENSP00000339115.3:p.Gly28Asp
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.83G>A
  hgvsp: ENSP00000386577.1:p.Gly28Asp
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly28Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 5.874405216471832e-5
  allele num: 34046
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

2-239009146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009146
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009146
    reference: chr 2
allele count: 3
allele frequency: 5.243288590604027e-5
allele num: 57216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.86C>T
  hgvsp: ENSP00000339115.3:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.86C>T
  hgvsp: ENSP00000386577.1:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro29Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 9.778994719342852e-5
  allele num: 10226
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

2-239009147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009147
    reference: chr 2
allele count: 3
allele frequency: 5.260942760942761e-5
allele num: 57024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.87G>A
  hgvsp: ENST00000409169.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.87G>A
  hgvsp: ENST00000343063.3:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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hgvs: p.Pro29Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4190
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-239009148-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009148
    reference: chr 2
allele count: 1
allele frequency: 1.747396379394702e-5
allele num: 57228
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.88G>C
  hgvsp: ENSP00000339115.3:p.Gly30Arg
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.88G>C
  hgvsp: ENSP00000386577.1:p.Gly30Arg
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 257
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  variant carriers: 0
hgvs: p.Gly30Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1408
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS

2-239009156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009156
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009156
    reference: chr 2
allele count: 4
allele frequency: 7.192950908110053e-5
allele num: 55610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.96C>T
  hgvsp: ENST00000343063.3:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.96C>T
  hgvsp: ENST00000409169.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 139
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  variant carriers: 0
hgvs: p.Thr32Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10020
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-239009157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009157
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009157
    reference: chr 2
allele count: 1
allele frequency: 1.815541031227306e-5
allele num: 55080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.97G>A
  hgvsp: ENSP00000386577.1:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.97G>A
  hgvsp: ENSP00000339115.3:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Asp33Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4288
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-239009164-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009164
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009164
    reference: chr 2
allele count: 3
allele frequency: 5.625351584474029e-5
allele num: 53330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.104T>G
  hgvsp: ENSP00000386577.1:p.Leu35Arg
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.104T>G
  hgvsp: ENSP00000339115.3:p.Leu35Arg
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 3
hgvs: p.Leu35Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9622
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

2-239009171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009171
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009171
    reference: chr 2
allele count: 3
allele frequency: 5.845218611176058e-5
allele num: 51324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.111C>T
  hgvsp: ENST00000343063.3:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.111C>T
  hgvsp: ENST00000409169.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala37Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3842
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

2-239009183-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009183
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009183
    reference: chr 2
allele count: 1
allele frequency: 2.082725871620777e-5
allele num: 48014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.123C>G
  hgvsp: ENSP00000386577.1:p.His41Gln
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.123C>G
  hgvsp: ENSP00000339115.3:p.His41Gln
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.His41Gln
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 27470
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-239009185-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009185
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009185
    reference: chr 2
allele count: 1
allele frequency: 2.098371663589055e-5
allele num: 47656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.125A>G
  hgvsp: ENSP00000386577.1:p.His42Arg
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.125A>G
  hgvsp: ENSP00000339115.3:p.His42Arg
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2157
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.His42Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 288
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

2-239009186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009186
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009186
    reference: chr 2
allele count: 3
allele frequency: 6.367804381049414e-5
allele num: 47112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.126C>T
  hgvsp: ENST00000409169.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.126C>T
  hgvsp: ENST00000343063.3:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 480
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hgvs: p.His42His
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.878526194588371e-4
  allele num: 3474
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-239009187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009187
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009187
    reference: chr 2
allele count: 1
allele frequency: 2.149797918995614e-5
allele num: 46516
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.127G>A
  hgvsp: ENSP00000339115.3:p.Ala43Thr
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.127G>A
  hgvsp: ENSP00000386577.1:p.Ala43Thr
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12064
  bin: 1.25e1
  variant carriers: 1
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: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala43Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2932
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-239009193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009193
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009193
    reference: chr 2
allele count: 3
allele frequency: 6.707507937217725e-5
allele num: 44726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000386577
  ensembl transcript: ENST00000409169
  gene symbol: ESPNL
  hgvsc: ENST00000409169.1:c.133C>T
  hgvsp: ENSP00000386577.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/27937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144488
  ensembl protein: ENSP00000339115
  ensembl transcript: ENST00000343063
  gene symbol: ESPNL
  hgvsc: ENST00000343063.3:c.133C>T
  hgvsp: ENSP00000339115.3:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/27937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27711
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12093
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.75e1
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8497
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32844
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg45Trp
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3514
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

2-239009194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 239009194
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 239009194
    reference: chr 2
allele count: 10
allele frequency: 2.248909278999685e-4
allele num: 44466
alternate allele: A
canonical: true
consequence: missense
filter: PASS
hgvs: p.Arg45Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4259
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4792
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.942124684404739e-4
allele num: 10298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46150
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.254705144291092e-4
allele num: 7970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3232
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.10617e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.058e1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 1.731e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.154e0

GenotypeQuality
all individuals: 855
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4851
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.351206434316354e-4
allele num: 5968
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.858736059479554e-3
allele num: 538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.801e0

DP
type: SiteQuality
SIO_000300: 7.79499e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 1.4234e1

MQRankSum
type: SiteQuality
SIO_000300: -1.157e0

QD
type: SiteQuality
SIO_000300: 1.01e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.135e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
all individuals: 1498
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4991
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.44145e5

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.066e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.51e1

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5037
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27699
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5595
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.992547245142401e-4
allele num: 7514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 3.669556442365029e-4
allele num: 43602
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.517411185367569e-4
allele num: 5686
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.105705440070765e-4
allele num: 9044
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.109e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.274e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 3.005e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

DP
type: SiteQuality
SIO_000300: 7.38382e5

GenotypeQuality
all individuals: 616
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5066
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5542
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43312
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.575157515751575e-3
allele num: 8888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 1.3341e1

DP
type: SiteQuality
SIO_000300: 7.32534e5

VQSLOD
type: SiteQuality
SIO_000300: -9.583e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 594
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27699
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6718
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.339046598821639e-4
allele num: 7468
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.767408978437611e-4
allele num: 5658
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.773049645390071e-4
allele num: 5640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.125112511251125e-4
allele num: 8888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.617657923900997e-5
allele num: 43312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2954
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.583e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 1.3341e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 7.32534e5

GenotypeQuality
all individuals: 5859
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27849
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5073
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 586
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 625
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.43878954607978e-4
allele num: 2908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.97350069735007e-5
allele num: 43020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 1.237e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

DP
type: SiteQuality
SIO_000300: 7.26733e5

QD
type: SiteQuality
SIO_000300: 9.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeQuality
all individuals: 5859
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
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GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7408
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.784439685938615e-4
allele num: 5604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.324500232450023e-5
allele num: 43020
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.94e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 7.26733e5

FS
type: SiteQuality
SIO_000300: 1.237e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 41

GenotypeQuality
all individuals: 364
bin: 4.75e1
variant carriers: 21

GenotypeQuality
all individuals: 1408
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 5906
bin: 7.5e0
variant carriers: 15

GenotypeQuality
all individuals: 27319
bin: 2.25e1
variant carriers: 27

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 51

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 49

GenotypeQuality
all individuals: 2238
bin: 3.75e1
variant carriers: 9

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 40

GenotypeQuality
all individuals: 571
bin: 6.75e1
variant carriers: 32

GenotypeQuality
all individuals: 1388
bin: 1.75e1
variant carriers: 13

GenotypeQuality
all individuals: 436
bin: 4.25e1
variant carriers: 9

South Asian
type: Population
allele count: 72
allele frequency: 8.339124391938846e-3
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 7.516105941302791e-3
allele num: 5588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 112
allele frequency: 3.848797250859107e-2
allele num: 2910
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 1983
allele frequency: 4.642071258017697e-2
allele num: 42718
num of homozygotes: 38

Latino
type: Population
allele count: 79
allele frequency: 1.074537540805223e-2
allele num: 7352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 1.428571428571429e-2
allele num: 490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

QD
type: SiteQuality
SIO_000300: 1.343e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.22186e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 129
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
all individuals: 6407
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variant carriers: 0

GenotypeQuality
all individuals: 190
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 5255
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variant carriers: 0

GenotypeQuality
all individuals: 28512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.388687177527231e-5
allele num: 41864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7290
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.316e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 7.01351e5

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 5314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8076
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3188
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.576921094676081e-5
allele num: 38806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.643e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.217e1

VQSLOD
type: SiteQuality
SIO_000300: -1.056e0

DP
type: SiteQuality
SIO_000300: 6.47249e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 1169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8624
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variant carriers: 0

GenotypeQuality
all individuals: 5109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6399
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.887169419101513e-5
allele num: 34636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5762
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.68e-1

QD
type: SiteQuality
SIO_000300: 7.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 6.12597e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.097e0

VQSLOD
type: SiteQuality
SIO_000300: -7.605e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 15361
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1645
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8229
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3517
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
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variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5061
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.058e5

QD
type: SiteQuality
SIO_000300: 2.273e1

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

GenotypeQuality
all individuals: 797
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.040816326530612e-3
allele num: 490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 1.5175e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

VQSLOD
type: SiteQuality
SIO_000300: -2.582e0

MQ
type: SiteQuality
SIO_000300: 5.701e1

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 3.3819e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 734
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558117793705204e-4
allele num: 6418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1798
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.250495891187305e-4
allele num: 7058
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.811e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

DP
type: SiteQuality
SIO_000300: 3.3981e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-2

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1228
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.375515818431912e-4
allele num: 7270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.09e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.538e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

DP
type: SiteQuality
SIO_000300: 3.58673e5

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 147

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 37

GenotypeQuality
all individuals: 294
bin: 6.75e1
variant carriers: 123

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 62

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 18

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 77

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 91

GenotypeQuality
all individuals: 180
bin: 7.75e1
variant carriers: 136

Other
type: Population
allele count: 116
allele frequency: 5.225225225225225e-1
allele num: 222
num of homozygotes: 33

Latino
type: Population
allele count: 162
allele frequency: 4.5e-1
allele num: 360
num of homozygotes: 37

African
type: Population
allele count: 289
allele frequency: 2.304625199362041e-1
allele num: 1254
num of homozygotes: 29

South Asian
type: Population
allele count: 3579
allele frequency: 4.744167550371156e-1
allele num: 7544
num of homozygotes: 837

East Asian
type: Population
allele count: 66
allele frequency: 1.341463414634146e-1
allele num: 492
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 3592
allele frequency: 5.354800238521169e-1
allele num: 6708
num of homozygotes: 976

European (Finnish)
type: Population
allele count: 1031
allele frequency: 5.689845474613686e-1
allele num: 1812
num of homozygotes: 281

BaseQRankSum
type: SiteQuality
SIO_000300: -1.155e0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
SIO_000300: 2.035e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 4.381e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

FS
type: SiteQuality
SIO_000300: 5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.873563218390805e-3
allele num: 348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 5.005561735261402e-3
allele num: 1798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 8.305647840531562e-4
allele num: 1204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.264492753623188e-3
allele num: 6624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.547e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 4.30514e5

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3114
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1790
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.538071065989848e-3
allele num: 1182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.155e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 4.32107e5

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 9.75e1
variant carriers: 47

GenotypeQuality
all individuals: 766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 2.608922515001304e-3
allele num: 7666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 2.249718785151856e-3
allele num: 1778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.686635944700461e-3
allele num: 6510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 4.32266e5

QD
type: SiteQuality
SIO_000300: 1.193e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1774
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304461257500652e-4
allele num: 7666
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.894e0

FS
type: SiteQuality
SIO_000300: 2.228e0

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.645e-1

DP
type: SiteQuality
SIO_000300: 4.28791e5

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3074
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 464
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1082
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.913383772501957e-4
allele num: 7666
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: -1.595e0

FS
type: SiteQuality
SIO_000300: 5.911e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

QD
type: SiteQuality
SIO_000300: 1.939e1

DP
type: SiteQuality
SIO_000300: 4.26309e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.82e-1

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304461257500652e-4
allele num: 7666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.655e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.664e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 4.22923e5

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.33000333000333e-4
allele num: 6006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.173999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

DP
type: SiteQuality
SIO_000300: 4.20413e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.59e0

QD
type: SiteQuality
SIO_000300: 1.627e1

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.861e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 105

GenotypeQuality
all individuals: 63
bin: 7.25e1
variant carriers: 25

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 26

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 52

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 63

GenotypeQuality
all individuals: 95
bin: 7.75e1
variant carriers: 45

GenotypeQuality
all individuals: 6302
bin: 9.75e1
variant carriers: 5863

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 39

European (Non-Finnish)
type: Population
allele count: 3149
allele frequency: 5.321054410273741e-1
allele num: 5918
num of homozygotes: 848

African
type: Population
allele count: 281
allele frequency: 2.920997920997921e-1
allele num: 962
num of homozygotes: 48

East Asian
type: Population
allele count: 64
allele frequency: 1.311475409836066e-1
allele num: 488
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 1008
allele frequency: 5.915492957746479e-1
allele num: 1704
num of homozygotes: 291

Latino
type: Population
allele count: 133
allele frequency: 4.523809523809524e-1
allele num: 294
num of homozygotes: 31

South Asian
type: Population
allele count: 3597
allele frequency: 4.701960784313726e-1
allele num: 7650
num of homozygotes: 844

Other
type: Population
allele count: 114
allele frequency: 5.428571428571428e-1
allele num: 210
num of homozygotes: 32

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.216e0

QD
type: SiteQuality
SIO_000300: 2.161e1

DP
type: SiteQuality
SIO_000300: 4.87922e5

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 9.75e1
variant carriers: 1148

GenotypeQuality
all individuals: 612
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 128
bin: 7.25e1
variant carriers: 1

East Asian
type: Population
allele count: 55
allele frequency: 1.131687242798354e-1
allele num: 486
num of homozygotes: 6

African
type: Population
allele count: 71
allele frequency: 7.634408602150537e-2
allele num: 930
num of homozygotes: 4

Latino
type: Population
allele count: 50
allele frequency: 1.724137931034483e-1
allele num: 290
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 366
allele frequency: 6.540385989992852e-2
allele num: 5596
num of homozygotes: 14

Other
type: Population
allele count: 12
allele frequency: 5.825242718446602e-2
allele num: 206
num of homozygotes: 1

South Asian
type: Population
allele count: 568
allele frequency: 7.493403693931398e-2
allele num: 7580
num of homozygotes: 28

European (Finnish)
type: Population
allele count: 91
allele frequency: 5.429594272076373e-2
allele num: 1676
num of homozygotes: 6

QD
type: SiteQuality
SIO_000300: 1.559e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.49e-2

DP
type: SiteQuality
SIO_000300: 3.39362e5

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.902587519025875e-4
allele num: 5256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.471e0

VQSLOD
type: SiteQuality
SIO_000300: -1.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.002e0

MQ
type: SiteQuality
SIO_000300: 5.848e1

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

DP
type: SiteQuality
SIO_000300: 2.93854e5

GenotypeQuality
all individuals: 79
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.925298421255295e-4
allele num: 5194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

QD
type: SiteQuality
SIO_000300: 1.158e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 2.83835e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 62
bin: 7.25e1
variant carriers: 0

Other
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: 464
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.758620689655173e-4
allele num: 7250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5126
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

DP
type: SiteQuality
SIO_000300: 2.69842e5

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.556e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

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

Latino
type: Population
allele count: 3
allele frequency: 1.675977653631285e-3
allele num: 1790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.782434374763598e-5
allele num: 26438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1038
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.47387e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 9.09e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1040
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.368e0

VQSLOD
type: SiteQuality
SIO_000300: -9.715e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.50328e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27436
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.582644628099174e-4
allele num: 3872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.155e0

QD
type: SiteQuality
SIO_000300: 3.74e0

DP
type: SiteQuality
SIO_000300: 5.90918e5

VQSLOD
type: SiteQuality
SIO_000300: -2.388e0

African
type: Population
allele count: 12
allele frequency: 2.989536621823617e-3
allele num: 4014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27672
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.05757e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

FS
type: SiteQuality
SIO_000300: 1.292e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

DP
type: SiteQuality
SIO_000300: 6.20934e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

Latino
type: Population
allele count: 2
allele frequency: 9.891196834817012e-4
allele num: 2022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.227897838899804e-3
allele num: 4072
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.524e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 6.29781e5

QD
type: SiteQuality
SIO_000300: 1.352e1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 2.987651042358253e-4
allele num: 30124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8660
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 6.9164e5

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 3
allele frequency: 3.3178500331785e-4
allele num: 9042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: -4.435e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.023e0

FS
type: SiteQuality
SIO_000300: 1.0086e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

DP
type: SiteQuality
SIO_000300: 7.28512e5

QD
type: SiteQuality
SIO_000300: 1.147e1

South Asian
type: Population
allele count: 1
allele frequency: 1.088850174216028e-4
allele num: 9184
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.383125864453665e-3
allele num: 4338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

FS
type: SiteQuality
SIO_000300: 2.367e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

DP
type: SiteQuality
SIO_000300: 7.39607e5

Latino
type: Population
allele count: 1
allele frequency: 3.765060240963856e-4
allele num: 2656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4416
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 7.59751e5

VQSLOD
type: SiteQuality
SIO_000300: -4.859e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

QD
type: SiteQuality
SIO_000300: 7.92e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 7.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 7.67454e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -2.48e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.066e1

VQSLOD
type: SiteQuality
SIO_000300: -7.137e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.03915e5

MQ
type: SiteQuality
SIO_000300: 5.261e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.968e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.907e1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 8.38912e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.67e-1

South Asian
type: Population
allele count: 18
allele frequency: 1.711677443895017e-3
allele num: 10516
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1646
num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 8.102456874019864e-3
allele num: 3826
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 1.275510204081633e-2
allele num: 392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

African
type: Population
allele count: 573
allele frequency: 1.07545045045045e-1
allele num: 5328
num of homozygotes: 20

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

FS
type: SiteQuality
SIO_000300: 2.536e0

DP
type: SiteQuality
SIO_000300: 8.61933e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.554931016862545e-5
allele num: 39140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.034174125305126e-4
allele num: 4916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.7461e5

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

FS
type: SiteQuality
SIO_000300: 3.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.109862033725089e-5
allele num: 39140
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.034174125305126e-4
allele num: 4916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.159e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 8.7461e5

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

East Asian
type: Population
allele count: 42
allele frequency: 8.433734939759036e-3
allele num: 4980
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 2.39463601532567e-4
allele num: 4176
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.773e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 8.80046e5

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.108e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40474
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 2.559882976778205e-3
allele num: 10938
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.972386587771203e-4
allele num: 5070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 2.59e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 8.95636e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.871668311944718e-5
allele num: 40520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5350
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.99564e5

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.820671037408407e-5
allele num: 41488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

QD
type: SiteQuality
SIO_000300: 8.92e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.55e-1

DP
type: SiteQuality
SIO_000300: 9.13235e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: -2.632e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.101723413198823e-4
allele num: 4758
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

DP
type: SiteQuality
SIO_000300: 9.1562e5

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

QD
type: SiteQuality
SIO_000300: 7.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.004e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.835535976505139e-4
allele num: 5448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.946144211844694e-5
allele num: 11178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.509e0

VQSLOD
type: SiteQuality
SIO_000300: -2.308e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.0e1

DP
type: SiteQuality
SIO_000300: 9.10374e5

African
type: Population
allele count: 1
allele frequency: 1.845699520118125e-4
allele num: 5418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.854133294500267e-5
allele num: 41202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.038e0

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

DP
type: SiteQuality
SIO_000300: 9.01776e5

QD
type: SiteQuality
SIO_000300: 7.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.167e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.721952167995334e-5
allele num: 41144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 1.072501072501072e-3
allele num: 4662
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

DP
type: SiteQuality
SIO_000300: 8.98237e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.440333837668993e-5
allele num: 40978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.353e1

DP
type: SiteQuality
SIO_000300: 8.91939e5

QD
type: SiteQuality
SIO_000300: 1.783e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 5.204e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.586e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.871467286101432e-4
allele num: 5166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.445107340212235e-5
allele num: 40898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 1.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 8.88903e5

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.50890661849566e-5
allele num: 39858
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.406e0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

QD
type: SiteQuality
SIO_000300: 9.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 8.64905e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

South Asian
type: Population
allele count: 4
allele frequency: 3.623844899438304e-4
allele num: 11038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 2.176278563656148e-3
allele num: 1838
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 9.254974548819991e-4
allele num: 4322
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.930817610062893e-4
allele num: 5088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4958
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

QD
type: SiteQuality
SIO_000300: 1.025e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 8.50706e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.0755500207555e-4
allele num: 4818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37640
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.23702e5

MQ
type: SiteQuality
SIO_000300: 5.817e1

FS
type: SiteQuality
SIO_000300: 1.584e0

MQRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 9.6e0

VQSLOD
type: SiteQuality
SIO_000300: -2.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.44e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
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Latino
type: Population
allele count: 2
allele frequency: 5.060728744939271e-4
allele num: 3952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4758
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.98335e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.37e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.03e0

African
type: Population
allele count: 1
allele frequency: 2.130379207498935e-4
allele num: 4694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36924
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.288e1

VQSLOD
type: SiteQuality
SIO_000300: -2.906e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.9741e5

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

Latino
type: Population
allele count: 10
allele frequency: 2.652519893899204e-3
allele num: 3770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.809778027535825e-5
allele num: 35590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

FS
type: SiteQuality
SIO_000300: 4.334e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 7.70753e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 9.84e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.717721156598912e-4
allele num: 34930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10558
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 5.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.61247e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

QD
type: SiteQuality
SIO_000300: 1.082e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

South Asian
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: 3564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.867e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 7.4675e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.848e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

QD
type: SiteQuality
SIO_000300: 5.45e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33156
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.767012687427913e-4
allele num: 3468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.203e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

DP
type: SiteQuality
SIO_000300: 7.34183e5

QD
type: SiteQuality
SIO_000300: 1.022e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.084852522560717e-5
allele num: 33022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.345e1

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 6.156e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 7.33598e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.017683626048645e-5
allele num: 33138
num of homozygotes: 0

South 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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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
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DP
type: SiteQuality
SIO_000300: 7.32973e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.189e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4104
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Other
type: Population
allele count: 1
allele frequency: 2.976190476190476e-3
allele num: 336
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1362
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.353370331109309e-5
allele num: 32074
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.20827e5

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.893e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

QD
type: SiteQuality
SIO_000300: 1.974e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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African
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allele count: 1
allele frequency: 2.455795677799607e-4
allele num: 4072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.644e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.14519e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1312
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.789844667797937e-5
allele num: 30644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
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MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

DP
type: SiteQuality
SIO_000300: 6.93186e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.006e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.795786612300373e-5
allele num: 29430
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East Asian
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allele count: 0
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Latino
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allele count: 1
allele frequency: 3.182686187141948e-4
allele num: 3142
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1266
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
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South Asian
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 6.72392e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

FS
type: SiteQuality
SIO_000300: 9.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

East Asian
type: Population
allele count: 0
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South Asian
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allele count: 1
allele frequency: 1.147842056932966e-4
allele num: 8712
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Latino
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

African
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
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VQSLOD
type: SiteQuality
SIO_000300: -2.394e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.33104e5

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 3002
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3776
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.672689878066696e-5
allele num: 27228
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

DP
type: SiteQuality
SIO_000300: 6.27673e5

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3730
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.369272237196766e-4
allele num: 2968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.707823507601038e-5
allele num: 26970
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.91e0

FS
type: SiteQuality
SIO_000300: 5.7e0

DP
type: SiteQuality
SIO_000300: 6.24701e5

VQSLOD
type: SiteQuality
SIO_000300: -1.699e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.757138563270213e-5
allele num: 26616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

FS
type: SiteQuality
SIO_000300: 9.526999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

QD
type: SiteQuality
SIO_000300: 7.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

DP
type: SiteQuality
SIO_000300: 6.19274e5

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.803355442840422e-5
allele num: 25630
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.232437761893024e-4
allele num: 8114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.06135e5

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.329e0

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

QD
type: SiteQuality
SIO_000300: 9.99e0