9-90460863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460863
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460863
    reference: chr 9
allele count: 615
allele frequency: 8.015117946044571e-3
allele num: 76730
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.688G>A
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 2.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 19604
  bin: 7.5e0
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 1.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 21588
  bin: 2.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 1.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 22332
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 9.75e1
  variant carriers: 543
genotype quality: GenotypeQuality
  all individuals: 23359
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 10
num of homozygotes: 26
population: African
  type: Population
  allele count: 555
  allele frequency: 8.843212237093691e-2
  allele num: 6276
  num of homozygotes: 26
population: Latino
  type: Population
  allele count: 42
  allele frequency: 5.604483586869495e-3
  allele num: 7494
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5952
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

9-90460866-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460866
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460866
    reference: chr 9
allele count: 1
allele frequency: 1.293928885668444e-5
allele num: 77284
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.691G>T
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.668335001668335e-4
  allele num: 5994
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6100
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7596
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

9-90460872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460872
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460872
    reference: chr 9
allele count: 1
allele frequency: 1.293560655059116e-5
allele num: 77306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.697G>A
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  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: 22224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.48373155829318e-5
  allele num: 40262
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11930
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4842
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-90460872-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460872
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460872
    reference: chr 9
allele count: 1
allele frequency: 1.293560655059116e-5
allele num: 77306
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.697G>T
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22224
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5952
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11930
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7656
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

9-90460876-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460876
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460876
    reference: chr 9
allele count: 1
allele frequency: 1.284224585195459e-5
allele num: 77868
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.701A>G
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19097
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22846
  bin: 2.25e1
  variant carriers: 1
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 quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7696
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4882
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5960
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

9-90460877-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460877
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460877
    reference: chr 9
allele count: 1
allele frequency: 1.285247924324602e-5
allele num: 77806
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.702C>G
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7706
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.462447672986949e-5
  allele num: 40610
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6018
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-90460878-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460878
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460878
    reference: chr 9
allele count: 1
allele frequency: 1.282117031642648e-5
allele num: 77996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.703T>A
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 25981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12020
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5954
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.455795677799607e-5
  allele num: 40720
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

9-90460879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460879
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460879
    reference: chr 9
allele count: 2
allele frequency: 2.567064561673726e-5
allele num: 77910
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.704G>A
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 18990
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2258
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
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genotype quality: GenotypeQuality
  all individuals: 467
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genotype quality: GenotypeQuality
  all individuals: 951
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genotype quality: GenotypeQuality
  all individuals: 184
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genotype quality: GenotypeQuality
  all individuals: 1492
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 248
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genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26031
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 467
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genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 34
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genotype quality: GenotypeQuality
  all individuals: 534
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  variant carriers: 0
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6032
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 40690
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 650
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

9-90460883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460883
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460883
    reference: chr 9
allele count: 7
allele frequency: 9.017132551848512e-5
allele num: 77630
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.708G>A
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22757
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  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: 2315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
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genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.462447672986949e-5
  allele num: 40610
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 652
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 5
  allele frequency: 4.179204279505182e-4
  allele num: 11964
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

9-90460884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460884
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460884
    reference: chr 9
allele count: 1
allele frequency: 1.296209882304143e-5
allele num: 77148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.709G>A
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19208
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  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 quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 257
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7596
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4836
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5950
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

9-90460892-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460892
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460892
    reference: chr 9
allele count: 2
allele frequency: 2.653646109754803e-5
allele num: 75368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.717C>T
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8370
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22529
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 626
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5786
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 39378
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

11-597066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597066
    reference: chr 11
allele count: 1
allele frequency: 1.069678882399504e-5
allele num: 93486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.715+46T>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.718+46T>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.706+46T>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.718+46T>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.718+46T>C
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10603
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  bin: 2.25e1
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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
  all individuals: 2871
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

9-90460906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460906
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460906
    reference: chr 9
allele count: 1
allele frequency: 1.407974769092138e-5
allele num: 71024
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.731G>A
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 2.75e1
  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 depth: GenotypeDepth
  all individuals: 758
  bin: 3.25e1
  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: 1.75e1
  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: 9.25e1
  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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
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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: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 596
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6744
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11410
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

9-90460911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460911
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460911
    reference: chr 9
allele count: 1
allele frequency: 1.455095745300041e-5
allele num: 68724
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.736C>T
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11194
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6450
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5276
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

9-90460920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460920
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460920
    reference: chr 9
allele count: 2
allele frequency: 3.276325273573161e-5
allele num: 61044
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.745C>T
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15007
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.967729240456513e-4
  allele num: 10164
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5568
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4414
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

9-90460932-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460932
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460933
    reference: chr 9
allele count: 2
allele frequency: 4.123541297266092e-5
allele num: 48502
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.758+6dupA
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17122
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
hgvs: n.758+6dupA
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3246
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.199904007679386e-4
  allele num: 8334
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

9-90460958-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460958
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460958
    reference: chr 9
allele count: 2
allele frequency: 7.307804735457468e-5
allele num: 27368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.758+25T>C
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  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: 914
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1450
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2096
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5274
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

9-90460964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460964
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460964
    reference: chr 9
allele count: 1
allele frequency: 4.249893752656184e-5
allele num: 23530
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.758+31T>C
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  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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  bin: 1.25e1
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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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  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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23555
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 22268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 266
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 8.493290300662476e-5
  allele num: 11774
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1738
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

9-90460966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460966
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460966
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 21770
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.758+33A>G
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 497
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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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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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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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 533
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1090
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1826
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 258
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

9-90460975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460975
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460975
    reference: chr 9
allele count: 1
allele frequency: 5.64652738565782e-5
allele num: 17710
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.758+42A>G
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23917
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 871
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 102
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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
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
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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
  all individuals: 345
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 93
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 222
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1502
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1188
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

9-90460980-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90460980
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 90460980
    reference: chr 9
allele count: 1
allele frequency: 6.633059166887768e-5
allele num: 15076
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234575
  ensembl transcript: ENST00000413075
  gene symbol: CTSLP8
  hgvsc: ENST00000413075.1:n.758+47G>C
  variant of: http://identifiers.org/hgnc/39084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24627
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
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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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 684
  num of homozygotes: 0
population: African
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  allele count: 0
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  allele num: 1304
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 980
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

11-597068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597068
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597068
    reference: chr 11
allele count: 1
allele frequency: 1.090179661608233e-5
allele num: 91728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.718+48T>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.718+48T>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.718+48T>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.706+48T>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.715+48T>C
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13800
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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: 2.5e0
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  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: 0
genotype depth: GenotypeDepth
  all individuals: 2925
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8593
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

11-597348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597348
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597348
    reference: chr 11
allele count: 3
allele frequency: 3.220888535784072e-5
allele num: 93142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-47C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-47C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-47C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-47C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-47C>T
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17311
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

11-597349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597349
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597349
    reference: chr 11
allele count: 180
allele frequency: 1.925010159775843e-3
allele num: 93506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-46G>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-46G>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-46G>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-46G>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-46G>A
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17235
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9512
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6574
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 2
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

11-597349-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597349
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597349
    reference: chr 11
allele count: 1
allele frequency: 1.069450088764357e-5
allele num: 93506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-46G>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-46G>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-46G>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-46G>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-46G>C
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

11-597360-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597360
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597360
    reference: chr 11
allele count: 1
allele frequency: 1.043296817944705e-5
allele num: 95850
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-35G>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-35G>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-35G>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-35G>C
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-35G>C
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22116
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

11-597361-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597361
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597361
    reference: chr 11
allele count: 1
allele frequency: 1.041341247526815e-5
allele num: 96030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-34A>G
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-34A>G
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-34A>G
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-34A>G
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-34A>G
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22522
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

11-597364-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597364
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597364
    reference: chr 11
allele count: 1
allele frequency: 1.03404061711544e-5
allele num: 96708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-31G>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-31G>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-31G>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-31G>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-31G>T
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24170
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

11-597370-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597370
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597370
    reference: chr 11
allele count: 1
allele frequency: 1.020908199934662e-5
allele num: 97952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-25C>G
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-25C>G
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-25C>G
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-25C>G
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-25C>G
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26619
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

11-597370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597370
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597370
    reference: chr 11
allele count: 2
allele frequency: 2.041816399869324e-5
allele num: 97952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-25C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-25C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-25C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-25C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-25C>T
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-597373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597373
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597373
    reference: chr 11
allele count: 3
allele frequency: 3.038897893030794e-5
allele num: 98720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-22C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-22C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-22C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-22C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-22C>T
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9622
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-597375-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597375
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597375
    reference: chr 11
allele count: 1
allele frequency: 1.00500492452413e-5
allele num: 99502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-20G>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-20G>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-20G>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-20G>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-20G>T
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10297
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

11-597381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597381
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597381
    reference: chr 11
allele count: 1
allele frequency: 9.836130072984085e-6
allele num: 101666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-14G>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-14G>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-14G>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-14G>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-14G>A
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

11-597390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597390
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597390
    reference: chr 11
allele count: 4
allele frequency: 3.829583532790809e-5
allele num: 104450
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-5C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-5C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-5C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-5C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-5C>T
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34216
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
hgvs: c.719-5C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-597391-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597391
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597391
    reference: chr 11
allele count: 1
allele frequency: 9.532161512944676e-6
allele num: 104908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.719-4C>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.707-4C>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.716-4C>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.719-4C>A
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.719-4C>A
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34579
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
hgvs: c.719-4C>A
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: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-597398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597398
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597398
    reference: chr 11
allele count: 20
allele frequency: 1.86926369702974e-4
allele num: 106994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.719C>T
  hgvsp: ENSP00000388589.2:p.Ala240Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.722C>T
  hgvsp: ENSP00000264555.5:p.Ala241Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.722C>T
  hgvsp: ENSP00000410626.2:p.Ala241Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.722C>T
  hgvsp: ENSP00000435360.1:p.Ala241Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.710C>T
  hgvsp: ENSP00000431870.1:p.Ala237Val
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35709
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala241Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

11-597399-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597399
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597399
    reference: chr 11
allele count: 5
allele frequency: 4.640198971731908e-5
allele num: 107754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.723G>T
  hgvsp: ENST00000534320.1:c.723G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.720G>T
  hgvsp: ENST00000413872.2:c.720G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.711G>T
  hgvsp: ENST00000533464.1:c.711G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.723G>T
  hgvsp: ENST00000416188.2:c.723G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.723G>T
  hgvsp: ENST00000264555.5:c.723G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36101
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala241Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

11-597405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597405
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597405
    reference: chr 11
allele count: 4
allele frequency: 3.672959670902814e-5
allele num: 108904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.717C>T
  hgvsp: ENST00000533464.1:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.726C>T
  hgvsp: ENST00000413872.2:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.729C>T
  hgvsp: ENST00000264555.5:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.729C>T
  hgvsp: ENST00000534320.1:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.729C>T
  hgvsp: ENST00000416188.2:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36329
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro243Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

11-597406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597406
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597406
    reference: chr 11
allele count: 37
allele frequency: 3.385859916909167e-4
allele num: 109278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.730G>A
  hgvsp: ENSP00000435360.1:p.Val244Met
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.718G>A
  hgvsp: ENSP00000431870.1:p.Val240Met
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.727G>A
  hgvsp: ENSP00000388589.2:p.Val243Met
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.730G>A
  hgvsp: ENSP00000410626.2:p.Val244Met
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.730G>A
  hgvsp: ENSP00000264555.5:p.Val244Met
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36398
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val244Met
num of homozygotes: 1
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

11-597411-TGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597411
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597408
    reference: chr 11
allele count: 1
allele frequency: 9.108131740017488e-6
allele num: 109792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.731_733delAGG
  hgvsp: ENSP00000431870.1:p.Glu244del
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.743_745delAGG
  hgvsp: ENSP00000410626.2:p.Glu248del
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.740_742delAGG
  hgvsp: ENSP00000388589.2:p.Glu247del
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.743_745delAGG
  hgvsp: ENSP00000435360.1:p.Glu248del
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.743_745delAGG
  hgvsp: ENSP00000264555.5:p.Glu248del
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu248del
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: TGAG
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

11-597415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597415
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597415
    reference: chr 11
allele count: 1
allele frequency: 9.080507781995169e-6
allele num: 110126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.727G>A
  hgvsp: ENSP00000431870.1:p.Glu243Lys
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.739G>A
  hgvsp: ENSP00000435360.1:p.Glu247Lys
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.739G>A
  hgvsp: ENSP00000264555.5:p.Glu247Lys
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.739G>A
  hgvsp: ENSP00000410626.2:p.Glu247Lys
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.736G>A
  hgvsp: ENSP00000388589.2:p.Glu246Lys
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu247Lys
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

11-597419-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597419
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597419
    reference: chr 11
allele count: 1
allele frequency: 9.066511931529702e-6
allele num: 110296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.743A>T
  hgvsp: ENSP00000435360.1:p.Glu248Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.743A>T
  hgvsp: ENSP00000410626.2:p.Glu248Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.731A>T
  hgvsp: ENSP00000431870.1:p.Glu244Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.740A>T
  hgvsp: ENSP00000388589.2:p.Glu247Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.743A>T
  hgvsp: ENSP00000264555.5:p.Glu248Val
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu248Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

11-597420-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597420
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597420
    reference: chr 11
allele count: 1
allele frequency: 9.065196896076583e-6
allele num: 110312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.744G>C
  hgvsp: ENSP00000435360.1:p.Glu248Asp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.744G>C
  hgvsp: ENSP00000410626.2:p.Glu248Asp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.744G>C
  hgvsp: ENSP00000264555.5:p.Glu248Asp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.732G>C
  hgvsp: ENSP00000431870.1:p.Glu244Asp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.741G>C
  hgvsp: ENSP00000388589.2:p.Glu247Asp
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu248Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

11-597421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597421
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597421
    reference: chr 11
allele count: 1
allele frequency: 9.066018748526771e-6
allele num: 110302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.745G>A
  hgvsp: ENSP00000435360.1:p.Val249Ile
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.745G>A
  hgvsp: ENSP00000410626.2:p.Val249Ile
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.733G>A
  hgvsp: ENSP00000431870.1:p.Val245Ile
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.742G>A
  hgvsp: ENSP00000388589.2:p.Val248Ile
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.745G>A
  hgvsp: ENSP00000264555.5:p.Val249Ile
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val249Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

11-597421-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597421
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597421
    reference: chr 11
allele count: 3
allele frequency: 2.719805624558032e-5
allele num: 110302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.745G>T
  hgvsp: ENSP00000264555.5:p.Val249Phe
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.745G>T
  hgvsp: ENSP00000410626.2:p.Val249Phe
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.733G>T
  hgvsp: ENSP00000431870.1:p.Val245Phe
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.745G>T
  hgvsp: ENSP00000435360.1:p.Val249Phe
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.742G>T
  hgvsp: ENSP00000388589.2:p.Val248Phe
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val249Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

11-597422-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597422
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597422
    reference: chr 11
allele count: 3
allele frequency: 2.721236529879177e-5
allele num: 110244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.734T>A
  hgvsp: ENSP00000431870.1:p.Val245Asp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.746T>A
  hgvsp: ENSP00000264555.5:p.Val249Asp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.746T>A
  hgvsp: ENSP00000435360.1:p.Val249Asp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.743T>A
  hgvsp: ENSP00000388589.2:p.Val248Asp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.746T>A
  hgvsp: ENSP00000410626.2:p.Val249Asp
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val249Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

11-597427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597427
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597427
    reference: chr 11
allele count: 1
allele frequency: 9.078858969004776e-6
allele num: 110146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.748C>T
  hgvsp: ENST00000413872.2:c.748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.739C>T
  hgvsp: ENST00000533464.1:c.739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.751C>T
  hgvsp: ENST00000416188.2:c.751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.751C>T
  hgvsp: ENST00000534320.1:c.751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.751C>T
  hgvsp: ENST00000264555.5:c.751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39678
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu251Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

11-597428-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597428
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597428
    reference: chr 11
allele count: 1
allele frequency: 9.070952994321584e-6
allele num: 110242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.749T>C
  hgvsp: ENSP00000388589.2:p.Leu250Pro
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.752T>C
  hgvsp: ENSP00000410626.2:p.Leu251Pro
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.752T>C
  hgvsp: ENSP00000435360.1:p.Leu251Pro
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.752T>C
  hgvsp: ENSP00000264555.5:p.Leu251Pro
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.740T>C
  hgvsp: ENSP00000431870.1:p.Leu247Pro
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu251Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-597432-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597432
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597432
    reference: chr 11
allele count: 1
allele frequency: 9.065196896076583e-6
allele num: 110312
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.756C>G
  hgvsp: ENST00000416188.2:c.756C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.744C>G
  hgvsp: ENST00000533464.1:c.744C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.756C>G
  hgvsp: ENST00000534320.1:c.756C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.756C>G
  hgvsp: ENST00000264555.5:c.756C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.753C>G
  hgvsp: ENST00000413872.2:c.753C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu252Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

11-597432-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597432
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597432
    reference: chr 11
allele count: 13
allele frequency: 1.178475596489956e-4
allele num: 110312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.756C>T
  hgvsp: ENST00000534320.1:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.753C>T
  hgvsp: ENST00000413872.2:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.756C>T
  hgvsp: ENST00000264555.5:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.756C>T
  hgvsp: ENST00000416188.2:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.744C>T
  hgvsp: ENST00000533464.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33757
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu252Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-597451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597451
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597451
    reference: chr 11
allele count: 13
allele frequency: 1.182915066698211e-4
allele num: 109898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.772A>G
  hgvsp: ENSP00000388589.2:p.Thr258Ala
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.763A>G
  hgvsp: ENSP00000431870.1:p.Thr255Ala
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.775A>G
  hgvsp: ENSP00000410626.2:p.Thr259Ala
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.775A>G
  hgvsp: ENSP00000435360.1:p.Thr259Ala
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.775A>G
  hgvsp: ENSP00000264555.5:p.Thr259Ala
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31347
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr259Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

11-597460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597460
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597460
    reference: chr 11
allele count: 1
allele frequency: 9.125586318920991e-6
allele num: 109582
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.784A>G
  hgvsp: ENSP00000410626.2:p.Arg262Gly
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.784A>G
  hgvsp: ENSP00000435360.1:p.Arg262Gly
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.781A>G
  hgvsp: ENSP00000388589.2:p.Arg261Gly
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.784A>G
  hgvsp: ENSP00000264555.5:p.Arg262Gly
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.772A>G
  hgvsp: ENSP00000431870.1:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg262Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

11-597462-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597462
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597462
    reference: chr 11
allele count: 7
allele frequency: 6.396900244909894e-5
allele num: 109428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.786G>C
  hgvsp: ENSP00000264555.5:p.Arg262Ser
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.774G>C
  hgvsp: ENSP00000431870.1:p.Arg258Ser
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.783G>C
  hgvsp: ENSP00000388589.2:p.Arg261Ser
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.786G>C
  hgvsp: ENSP00000435360.1:p.Arg262Ser
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.786G>C
  hgvsp: ENSP00000410626.2:p.Arg262Ser
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12852
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29247
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg262Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

11-597466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597466
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597466
    reference: chr 11
allele count: 4
allele frequency: 3.670600326683429e-5
allele num: 108974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.790C>T
  hgvsp: ENSP00000435360.1:p.Arg264Trp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.790C>T
  hgvsp: ENSP00000264555.5:p.Arg264Trp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.790C>T
  hgvsp: ENSP00000410626.2:p.Arg264Trp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.778C>T
  hgvsp: ENSP00000431870.1:p.Arg260Trp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.787C>T
  hgvsp: ENSP00000388589.2:p.Arg263Trp
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28630
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg264Trp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

11-597467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597467
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597467
    reference: chr 11
allele count: 1
allele frequency: 9.167079185230002e-6
allele num: 109086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.791G>A
  hgvsp: ENSP00000264555.5:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.791G>A
  hgvsp: ENSP00000410626.2:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.779G>A
  hgvsp: ENSP00000431870.1:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.791G>A
  hgvsp: ENSP00000435360.1:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.788G>A
  hgvsp: ENSP00000388589.2:p.Arg263Gln
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg264Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

11-597473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597473
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597473
    reference: chr 11
allele count: 5
allele frequency: 4.591874219381383e-5
allele num: 108888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.797G>A
  hgvsp: ENSP00000264555.5:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.797G>A
  hgvsp: ENSP00000410626.2:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.797G>A
  hgvsp: ENSP00000435360.1:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.794G>A
  hgvsp: ENSP00000388589.2:p.Arg265Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.785G>A
  hgvsp: ENSP00000431870.1:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg266Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

11-597477-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597477
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597477
    reference: chr 11
allele count: 442
allele frequency: 4.052814964239868e-3
allele num: 109060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.801A>G
  hgvsp: ENST00000264555.5:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.798A>G
  hgvsp: ENST00000413872.2:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.801A>G
  hgvsp: ENST00000416188.2:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.801A>G
  hgvsp: ENST00000534320.1:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.789A>G
  hgvsp: ENST00000533464.1:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29167
  bin: 2.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12694
  bin: 2.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 1.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36718
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 4.75e1
  variant carriers: 3
hgvs: p.Ala267Ala
num of homozygotes: 13
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/11-597487-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597487
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597487
    reference: chr 11
allele count: 4
allele frequency: 3.693034936110495e-5
allele num: 108312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.811C>A
  hgvsp: ENST00000416188.2:c.811C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.808C>A
  hgvsp: ENST00000413872.2:c.808C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.811C>A
  hgvsp: ENST00000264555.5:c.811C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.811C>A
  hgvsp: ENST00000534320.1:c.811C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.799C>A
  hgvsp: ENST00000533464.1:c.799C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg271Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

11-597487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597487
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597487
    reference: chr 11
allele count: 1
allele frequency: 9.232587340276238e-6
allele num: 108312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.811C>T
  hgvsp: ENSP00000410626.2:p.Arg271Trp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.808C>T
  hgvsp: ENSP00000388589.2:p.Arg270Trp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.811C>T
  hgvsp: ENSP00000435360.1:p.Arg271Trp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.799C>T
  hgvsp: ENSP00000431870.1:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.811C>T
  hgvsp: ENSP00000264555.5:p.Arg271Trp
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg271Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

11-597492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597492
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597492
    reference: chr 11
allele count: 1
allele frequency: 9.247614115558185e-6
allele num: 108136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.816G>A
  hgvsp: ENST00000534320.1:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.816G>A
  hgvsp: ENST00000264555.5:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.816G>A
  hgvsp: ENST00000416188.2:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.804G>A
  hgvsp: ENST00000533464.1:c.804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.813G>A
  hgvsp: ENST00000413872.2:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala272Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

11-597496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597496
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597496
    reference: chr 11
allele count: 2
allele frequency: 1.852984231104193e-5
allele num: 107934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.808G>A
  hgvsp: ENSP00000431870.1:p.Ala270Thr
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.820G>A
  hgvsp: ENSP00000435360.1:p.Ala274Thr
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.820G>A
  hgvsp: ENSP00000410626.2:p.Ala274Thr
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.817G>A
  hgvsp: ENSP00000388589.2:p.Ala273Thr
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.820G>A
  hgvsp: ENSP00000264555.5:p.Ala274Thr
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29334
  bin: 2.25e1
  variant carriers: 1
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: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala274Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

11-597506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597506
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597506
    reference: chr 11
allele count: 3
allele frequency: 2.79741146192723e-5
allele num: 107242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.818G>A
  hgvsp: ENSP00000431870.1:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.830G>A
  hgvsp: ENSP00000410626.2:p.Arg277Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.830G>A
  hgvsp: ENSP00000264555.5:p.Arg277Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.830G>A
  hgvsp: ENSP00000435360.1:p.Arg277Gln
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.827G>A
  hgvsp: ENSP00000388589.2:p.Arg276Gln
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg277Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

11-597506-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597506
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597506
    reference: chr 11
allele count: 2
allele frequency: 1.864940974618153e-5
allele num: 107242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.830G>T
  hgvsp: ENSP00000435360.1:p.Arg277Leu
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.830G>T
  hgvsp: ENSP00000410626.2:p.Arg277Leu
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.827G>T
  hgvsp: ENSP00000388589.2:p.Arg276Leu
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.830G>T
  hgvsp: ENSP00000264555.5:p.Arg277Leu
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.818G>T
  hgvsp: ENSP00000431870.1:p.Arg273Leu
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Arg277Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

11-597516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597516
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597516
    reference: chr 11
allele count: 2
allele frequency: 1.874027848053822e-5
allele num: 106722
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.840G>A
  hgvsp: ENST00000416188.2:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.840G>A
  hgvsp: ENST00000534320.1:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.828G>A
  hgvsp: ENST00000533464.1:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.837G>A
  hgvsp: ENST00000413872.2:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.840G>A
  hgvsp: ENST00000264555.5:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13194
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38628
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu280Glu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/11-597517-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597517
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597517
    reference: chr 11
allele count: 1
allele frequency: 9.368032525808929e-6
allele num: 106746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.841A>C
  hgvsp: ENST00000534320.1:c.841A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.838A>C
  hgvsp: ENST00000413872.2:c.838A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.841A>C
  hgvsp: ENST00000264555.5:c.841A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.841A>C
  hgvsp: ENST00000416188.2:c.841A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.829A>C
  hgvsp: ENST00000533464.1:c.829A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg281Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

11-597527-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597527
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597527
    reference: chr 11
allele count: 2
allele frequency: 1.908761213972132e-5
allele num: 104780
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.851C>T
  hgvsp: ENSP00000410626.2:p.Ala284Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.848C>T
  hgvsp: ENSP00000388589.2:p.Ala283Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.851C>T
  hgvsp: ENSP00000264555.5:p.Ala284Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.851C>T
  hgvsp: ENSP00000435360.1:p.Ala284Val
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.839C>T
  hgvsp: ENSP00000431870.1:p.Ala280Val
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala284Val
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

11-597531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597531
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597531
    reference: chr 11
allele count: 10
allele frequency: 9.611872585017013e-5
allele num: 104038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.855C>T
  hgvsp: ENST00000416188.2:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.843C>T
  hgvsp: ENST00000533464.1:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.855C>T
  hgvsp: ENST00000264555.5:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.855C>T
  hgvsp: ENST00000534320.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.852C>T
  hgvsp: ENST00000413872.2:c.852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13292
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr285Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

11-597534-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597534
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597534
    reference: chr 11
allele count: 1
allele frequency: 9.776509004164793e-6
allele num: 102286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.858G>C
  hgvsp: ENST00000264555.5:c.858G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.858G>C
  hgvsp: ENST00000416188.2:c.858G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.858G>C
  hgvsp: ENST00000534320.1:c.858G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.846G>C
  hgvsp: ENST00000533464.1:c.846G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.855G>C
  hgvsp: ENST00000413872.2:c.855G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val286Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/11-597541-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597541
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597541
    reference: chr 11
allele count: 1
allele frequency: 9.872447972199186e-6
allele num: 101292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.862A>C
  hgvsp: ENSP00000388589.2:p.Asn288His
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.865A>C
  hgvsp: ENSP00000264555.5:p.Asn289His
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.853A>C
  hgvsp: ENSP00000431870.1:p.Asn285His
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.865A>C
  hgvsp: ENSP00000435360.1:p.Asn289His
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.865A>C
  hgvsp: ENSP00000410626.2:p.Asn289His
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn289His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

11-597546-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597546
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597546
    reference: chr 11
allele count: 4
allele frequency: 4.033640562289495e-5
allele num: 99166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.870G>T
  hgvsp: ENST00000264555.5:c.870G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.870G>T
  hgvsp: ENST00000416188.2:c.870G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.867G>T
  hgvsp: ENST00000413872.2:c.867G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.858G>T
  hgvsp: ENST00000533464.1:c.858G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.870G>T
  hgvsp: ENST00000534320.1:c.870G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24975
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg290Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

11-597554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597554
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597554
    reference: chr 11
allele count: 3
allele frequency: 3.109775059604022e-5
allele num: 96470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.866C>T
  hgvsp: ENSP00000431870.1:p.Thr289Met
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.878C>T
  hgvsp: ENSP00000264555.5:p.Thr293Met
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.878C>T
  hgvsp: ENSP00000410626.2:p.Thr293Met
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.875C>T
  hgvsp: ENSP00000388589.2:p.Thr292Met
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.878C>T
  hgvsp: ENSP00000435360.1:p.Thr293Met
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31151
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr293Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

11-597555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597555
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597555
    reference: chr 11
allele count: 1
allele frequency: 1.046879252946965e-5
allele num: 95522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.879G>A
  hgvsp: ENST00000264555.5:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.879G>A
  hgvsp: ENST00000534320.1:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.876G>A
  hgvsp: ENST00000413872.2:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.879G>A
  hgvsp: ENST00000416188.2:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.867G>A
  hgvsp: ENST00000533464.1:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22453
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  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: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr293Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

11-597565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597565
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597565
    reference: chr 11
allele count: 1
allele frequency: 1.102292768959436e-5
allele num: 90720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.877G>A
  hgvsp: ENSP00000431870.1:p.Val293Ile
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.889G>A
  hgvsp: ENSP00000435360.1:p.Val297Ile
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.886G>A
  hgvsp: ENSP00000388589.2:p.Val296Ile
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.889G>A
  hgvsp: ENSP00000264555.5:p.Val297Ile
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.889G>A
  hgvsp: ENSP00000410626.2:p.Val297Ile
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val297Ile
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

11-597565-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597565
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597565
    reference: chr 11
allele count: 1
allele frequency: 1.102292768959436e-5
allele num: 90720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.886G>C
  hgvsp: ENSP00000388589.2:p.Val296Leu
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.877G>C
  hgvsp: ENSP00000431870.1:p.Val293Leu
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.889G>C
  hgvsp: ENSP00000264555.5:p.Val297Leu
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.889G>C
  hgvsp: ENSP00000410626.2:p.Val297Leu
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.889G>C
  hgvsp: ENSP00000435360.1:p.Val297Leu
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val297Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

11-597590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 597590
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 597590
    reference: chr 11
allele count: 1
allele frequency: 1.349454820252618e-5
allele num: 74104
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000410626
  ensembl transcript: ENST00000416188
  gene symbol: PHRF1
  hgvsc: ENST00000416188.2:c.894+20C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000388589
  ensembl transcript: ENST00000413872
  gene symbol: PHRF1
  hgvsc: ENST00000413872.2:c.891+20C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000431870
  ensembl transcript: ENST00000533464
  gene symbol: PHRF1
  hgvsc: ENST00000533464.1:c.882+20C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000264555
  ensembl transcript: ENST00000264555
  gene symbol: PHRF1
  hgvsc: ENST00000264555.5:c.894+20C>T
  variant of: http://identifiers.org/hgnc/24351
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070047
  ensembl protein: ENSP00000435360
  ensembl transcript: ENST00000534320
  gene symbol: PHRF1
  hgvsc: ENST00000534320.1:c.894+20C>T
  variant of: http://identifiers.org/hgnc/24351
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 1.75e1
  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: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

Other
type: Population
allele count: 1
allele frequency: 1.5625e-3
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 4.028400221562012e-4
allele num: 39718
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.438818565400843e-5
allele num: 11850
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.21e-2

QD
type: SiteQuality
SIO_000300: 1.303e1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 9.56432e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40182
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.56443e5

MQ
type: SiteQuality
SIO_000300: 5.828e1

VQSLOD
type: SiteQuality
SIO_000300: -2.886e0

QD
type: SiteQuality
SIO_000300: 1.367e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

QD
type: SiteQuality
SIO_000300: 9.32e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 4.419e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e-1

DP
type: SiteQuality
SIO_000300: 9.55625e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.48373155829318e-5
allele num: 40262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.419e0

QD
type: SiteQuality
SIO_000300: 9.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

VQSLOD
type: SiteQuality
SIO_000300: 2.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 9.55625e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.460751021211674e-5
allele num: 40638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12016
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 9.59517e5

MQ
type: SiteQuality
SIO_000300: 5.91e1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11996
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.669e0

FS
type: SiteQuality
SIO_000300: 2.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.371e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 4.44e0

DP
type: SiteQuality
SIO_000300: 9.58432e5

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.5995e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

QD
type: SiteQuality
SIO_000300: 4.44e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: -2.005e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.371e0

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

FS
type: SiteQuality
SIO_000300: 2.187e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4888
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.66472448809722e-4
allele num: 12014
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

DP
type: SiteQuality
SIO_000300: 9.59925e5

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.923999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.1228e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

FS
type: SiteQuality
SIO_000300: 5.94e0

DP
type: SiteQuality
SIO_000300: 9.55509e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.178e1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.478560452089426e-5
allele num: 40346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.095e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 9.50664e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -2.471e0

QD
type: SiteQuality
SIO_000300: 2.215e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4728
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.522367030644593e-4
allele num: 5678
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 9.26696e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 1.075e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.19e0

GenotypeQuality
all individuals: 2755
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.92975685063682e-5
allele num: 51820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13514
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

QD
type: SiteQuality
SIO_000300: 1.033e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

DP
type: SiteQuality
SIO_000300: 1.062265e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.698181425719065e-5
allele num: 37062
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.632e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

DP
type: SiteQuality
SIO_000300: 8.72467e5

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.792360102758852e-5
allele num: 35812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 8.43854e5

VQSLOD
type: SiteQuality
SIO_000300: -8.465e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

QD
type: SiteQuality
SIO_000300: 1.785e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31764
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.028e0

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 7.42814e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.62e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.634351949420442e-4
allele num: 3796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

DP
type: SiteQuality
SIO_000300: 6.02655e5

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

African
type: Population
allele count: 1
allele frequency: 4.512635379061372e-4
allele num: 2216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.220216606498195e-5
allele num: 13850
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2182
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 4.17299e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.97e-2

QD
type: SiteQuality
SIO_000300: 1.665e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.689e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

QD
type: SiteQuality
SIO_000300: 1.119e1

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 3.9047e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1774
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.52e-2

MQ
type: SiteQuality
SIO_000300: 5.852e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 6.3e0

DP
type: SiteQuality
SIO_000300: 3.78606e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

South Asian
type: Population
allele count: 1
allele frequency: 2.797985450475658e-4
allele num: 3574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.396e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.46773e5

MQ
type: SiteQuality
SIO_000300: 5.893e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.321003963011889e-4
allele num: 7570
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.432e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.46e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.859e1

DP
type: SiteQuality
SIO_000300: 3.32458e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

GenotypeQuality
all individuals: 2774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5963
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7416
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.471607890017931e-5
allele num: 13384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50754
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

QD
type: SiteQuality
SIO_000300: 1.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 5.006e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 1.059226e6

GenotypeQuality
all individuals: 11438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6784
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.847063169560399e-5
allele num: 54140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4740
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.330849081714134e-4
allele num: 7514
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.076194575979337e-4
allele num: 9292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

DP
type: SiteQuality
SIO_000300: 9.35403e5

QD
type: SiteQuality
SIO_000300: 1.144e1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 423
bin: 9.75e1
variant carriers: 165

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 583
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3188
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 147
allele frequency: 2.05078125e-2
allele num: 7168
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

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

Latino
type: Population
allele count: 21
allele frequency: 2.250321474496357e-3
allele num: 9332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.211818483429793e-4
allele num: 54254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 9.44135e5

QD
type: SiteQuality
SIO_000300: 1.409e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 423
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6574
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.395089285714286e-4
allele num: 7168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54254
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.409e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

DP
type: SiteQuality
SIO_000300: 9.44135e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.804077214504781e-5
allele num: 55430
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.123e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.627e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.293995859213251e-4
allele num: 7728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55518
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.467e0

FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.037445e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 9.551098376313276e-5
allele num: 10470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.98e0

FS
type: SiteQuality
SIO_000300: 2.098e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

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

VQSLOD
type: SiteQuality
SIO_000300: -9.052e-1

DP
type: SiteQuality
SIO_000300: 1.058338e6

MQ
type: SiteQuality
SIO_000300: 5.811e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.770412860279017e-5
allele num: 56484
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.096486e6

FS
type: SiteQuality
SIO_000300: 1.656e0

QD
type: SiteQuality
SIO_000300: 1.531e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.865323633650438e-4
allele num: 10722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 1.656e0

DP
type: SiteQuality
SIO_000300: 1.096486e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.0e-4
allele num: 7500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 6.017e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.483e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.114167e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.749965000699986e-5
allele num: 57144
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.133e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.22e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.720104582358608e-5
allele num: 58136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.351e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

African
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allele frequency: 5.108556832694764e-4
allele num: 7830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.220607e6

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.676670802454646e-5
allele num: 59642
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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FS
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MQ
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ClippingRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5540
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.554772097708386e-4
allele num: 7942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.652073352056831e-4
allele num: 60530
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.474708745022858e-4
allele num: 13562
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.207729468599034e-4
allele num: 8280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 1.266854e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
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GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 697
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.578081831337982e-5
allele num: 60808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.790830945558739e-4
allele num: 5584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13882
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

FS
type: SiteQuality
SIO_000300: 2.854e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.271936e6

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

GenotypeQuality
all individuals: 280
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.523157208088715e-5
allele num: 61320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14300
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.286701e6

GenotypeQuality
all individuals: 619
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 295
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 42879
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variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.241619071268935e-4
allele num: 8054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.854229680944482e-4
allele num: 61494
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14450
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.141e1

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.290475e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 6.012e0

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 4188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.237317495669389e-4
allele num: 8082
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14630
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.296654e6

FS
type: SiteQuality
SIO_000300: 7.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeQuality
all individuals: 383
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 43380
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variant carriers: 0

GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617861187510112e-5
allele num: 61810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.300389e6

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 511
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
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variant carriers: 0

GenotypeQuality
all individuals: 679
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 658
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GenotypeQuality
all individuals: 4259
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GenotypeQuality
all individuals: 5838
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.233654083395016e-4
allele num: 8106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14812
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.299223e6

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 548
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variant carriers: 0

GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 927
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variant carriers: 0

GenotypeQuality
all individuals: 331
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variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14806
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10612
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.232134056185313e-4
allele num: 8116
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.647e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.299148e6

FS
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.69e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 694
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 696
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.42151874882231e-5
allele num: 10614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.298511e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.759e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

QD
type: SiteQuality
SIO_000300: 1.048e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5849
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.847623048831723e-5
allele num: 61886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14812
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.759e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.298511e6

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.048e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 776
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variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.699136868064119e-4
allele num: 8110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61858
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 3.67e0

DP
type: SiteQuality
SIO_000300: 1.295627e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
all individuals: 255
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variant carriers: 1

GenotypeQuality
all individuals: 640
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GenotypeQuality
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GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 1279
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GenotypeQuality
all individuals: 937
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.439305267132339e-5
allele num: 10594
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 7.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

DP
type: SiteQuality
SIO_000300: 1.29333e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.136e0

GenotypeQuality
all individuals: 6045
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.42684766214178e-5
allele num: 10608
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.451e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.15e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.259e-1

DP
type: SiteQuality
SIO_000300: 1.292718e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.326e0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41276
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617390179206832e-5
allele num: 61828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.293735e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 2.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.102e0

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 1274
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617390179206832e-5
allele num: 61828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.483312731767614e-3
allele num: 8090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14906
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.186e1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

FS
type: SiteQuality
SIO_000300: 2.452e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

DP
type: SiteQuality
SIO_000300: 1.293735e6

GenotypeQuality
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.75e1
variant carriers: 13

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

GenotypeQuality
all individuals: 3960
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.718624025799516e-5
allele num: 14884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.947925459385754e-4
allele num: 61604
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

FS
type: SiteQuality
SIO_000300: 1.112e0

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.279656e6

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 7139
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36590
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626809825931349e-5
allele num: 61470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.271081e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

QD
type: SiteQuality
SIO_000300: 1.795e1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

GenotypeQuality
all individuals: 187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.24750499001996e-4
allele num: 8016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.514657980456026e-5
allele num: 61400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.34898151895319e-4
allele num: 14826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.269041e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 1.908e0

QD
type: SiteQuality
SIO_000300: 1.447e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
all individuals: 1144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7305
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3583
bin: 6.75e1
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GenotypeQuality
all individuals: 250
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.906129390985805e-5
allele num: 61148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.774149844194554e-5
allele num: 14762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

QD
type: SiteQuality
SIO_000300: 1.021e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

FS
type: SiteQuality
SIO_000300: 5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.26571e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 4.25e1
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GenotypeQuality
all individuals: 556
bin: 7.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633026324384349e-5
allele num: 61236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14752
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

DP
type: SiteQuality
SIO_000300: 1.266252e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.247e0

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

FS
type: SiteQuality
SIO_000300: 4.354e0

QD
type: SiteQuality
SIO_000300: 3.202e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 35024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 7.5e0
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GenotypeQuality
all individuals: 250
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.910787362907186e-5
allele num: 61090
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.776904310111141e-5
allele num: 14756
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.257229067136032e-4
allele num: 7954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10466
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.263315e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 4.599e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 655
bin: 9.75e1
variant carriers: 419

GenotypeQuality
all individuals: 907
bin: 4.25e1
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GenotypeQuality
all individuals: 3641
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 574
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variant carriers: 1

GenotypeQuality
all individuals: 1754
bin: 3.75e1
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GenotypeQuality
all individuals: 978
bin: 5.25e1
variant carriers: 1

African
type: Population
allele count: 2
allele frequency: 2.50689395838556e-4
allele num: 7978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.903082404471611e-5
allele num: 61186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

South Asian
type: Population
allele count: 434
allele frequency: 2.933621738542653e-2
allele num: 14794
num of homozygotes: 13

East Asian
type: Population
allele count: 1
allele frequency: 1.210653753026634e-4
allele num: 8260
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.564102564102564e-3
allele num: 780
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.91e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 1.745e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

DP
type: SiteQuality
SIO_000300: 1.280602e6

GenotypeQuality
all individuals: 674
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35860
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 884
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.581328770278719e-5
allele num: 60778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

FS
type: SiteQuality
SIO_000300: 9.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 9.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.263831e6

GenotypeQuality
all individuals: 187
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60778
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.82407533779173e-5
allele num: 14654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.263831e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
SIO_000300: 9.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

GenotypeQuality
all individuals: 211
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.839945280437756e-5
allele num: 14620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.82e0

FS
type: SiteQuality
SIO_000300: 2.275e0

DP
type: SiteQuality
SIO_000300: 1.265785e6

VQSLOD
type: SiteQuality
SIO_000300: -5.582e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 696
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14590
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.507522567703109e-4
allele num: 7976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

FS
type: SiteQuality
SIO_000300: 3.558e0

DP
type: SiteQuality
SIO_000300: 1.263894e6

GenotypeQuality
all individuals: 1214
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8899
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.320714617785747e-5
allele num: 60228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14476
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.234567901234568e-4
allele num: 8100
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

DP
type: SiteQuality
SIO_000300: 1.261981e6

QD
type: SiteQuality
SIO_000300: 1.008e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -2.377e-1

FS
type: SiteQuality
SIO_000300: 1.0324e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

GenotypeQuality
all individuals: 1466
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14476
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.523977788995457e-4
allele num: 7924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 1.0324e1

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.008e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

DP
type: SiteQuality
SIO_000300: 1.261981e6

VQSLOD
type: SiteQuality
SIO_000300: -2.377e-1

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.333666700003334e-5
allele num: 59994
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.189e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.198e1

FS
type: SiteQuality
SIO_000300: 6.531e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

DP
type: SiteQuality
SIO_000300: 1.260165e6

GenotypeQuality
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39011
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.666111296234588e-5
allele num: 60020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14456
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.499e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.66e0

QD
type: SiteQuality
SIO_000300: 1.112e1

DP
type: SiteQuality
SIO_000300: 1.260845e6

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.842e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

GenotypeQuality
all individuals: 10665
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.405678942929435e-4
allele num: 14228
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.86e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.246528e6

MQRankSum
type: SiteQuality
SIO_000300: -3.05e0

VQSLOD
type: SiteQuality
SIO_000300: -4.352e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.897116134060795e-4
allele num: 7698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.990445859872612e-4
allele num: 10048
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.413627367825841e-4
allele num: 14148
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.535496957403651e-4
allele num: 7888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.706251706251706e-5
allele num: 58608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.339e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

DP
type: SiteQuality
SIO_000300: 1.240422e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 146
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.01461038961039e-4
allele num: 9856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.187e0

VQSLOD
type: SiteQuality
SIO_000300: -2.56e0

QD
type: SiteQuality
SIO_000300: 2.368e1

FS
type: SiteQuality
SIO_000300: 3.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.215445e6

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35204
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 806
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57256
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.029230135858378e-4
allele num: 9716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.199331e6

MQ
type: SiteQuality
SIO_000300: 5.811e1

VQSLOD
type: SiteQuality
SIO_000300: -1.825e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

FS
type: SiteQuality
SIO_000300: 8.496e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.029e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

GenotypeQuality
all individuals: 313
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.123014459719353e-5
allele num: 56156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.021e0

FS
type: SiteQuality
SIO_000300: 6.984e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

DP
type: SiteQuality
SIO_000300: 1.170418e6

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: -1.914e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

QD
type: SiteQuality
SIO_000300: 7.52e0

GenotypeQuality
all individuals: 1456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.655237955990935e-5
allele num: 54716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.466029565477079e-5
allele num: 13394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

DP
type: SiteQuality
SIO_000300: 1.136109e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
all individuals: 1423
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2922
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30093
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.506380423359856e-5
allele num: 13322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

FS
type: SiteQuality
SIO_000300: 1.993e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

DP
type: SiteQuality
SIO_000300: 1.122671e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 22154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.7724234416291e-5
allele num: 12866
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.045965e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.845e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 1.452e0

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 6.6e0

VQSLOD
type: SiteQuality
SIO_000300: -3.853e-1

GenotypeQuality
all individuals: 232
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 707
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.938660773137916e-5
allele num: 51582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6826
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.045965e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 6.6e0

FS
type: SiteQuality
SIO_000300: 1.452e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.845e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.853e-1

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 3.75e1
variant carriers: 0