1-43214022-CACCTCGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214022
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43214014
    reference: chr 1
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460831
  gene symbol: LEPRE1
  hgvsc: ENST00000460831.1:n.385_392delCCCGAGGT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: CACCTCGGG
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-43214024-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43214024
    reference: chr 1
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1721-36G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1721-36G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460831
  gene symbol: LEPRE1
  hgvsc: ENST00000460831.1:n.391G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1721-36G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1913-36G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2001-36G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.643-36G>C
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5902
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-43214025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43214025
    reference: chr 1
allele count: 3
allele frequency: 2.475043313257982e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460831
  gene symbol: LEPRE1
  hgvsc: ENST00000460831.1:n.390G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.643-37G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2001-37G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1721-37G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1721-37G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1721-37G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1913-37G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

1-43214027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43214027
    reference: chr 1
allele count: 151
allele frequency: 1.245833470842546e-3
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1721-39G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1721-39G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1721-39G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1913-39G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2001-39G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460831
  gene symbol: LEPRE1
  hgvsc: ENST00000460831.1:n.388G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.643-39G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 30350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-43214028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43214028
    reference: chr 1
allele count: 3
allele frequency: 2.47537006782514e-5
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1721-40C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1913-40C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2001-40C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.643-40C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460831
  gene symbol: LEPRE1
  hgvsc: ENST00000460831.1:n.387C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1721-40C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1721-40C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-43214031-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214031
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43214031
    reference: chr 1
allele count: 3
allele frequency: 2.47520667975776e-5
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1721-43T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.643-43T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1721-43T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460831
  gene symbol: LEPRE1
  hgvsc: ENST00000460831.1:n.384T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2001-43T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1913-43T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1721-43T>C
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7886
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-43214034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43214034
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43214034
    reference: chr 1
allele count: 11
allele frequency: 9.075757825778452e-5
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.643-46G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1721-46G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1721-46G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460831
  gene symbol: LEPRE1
  hgvsc: ENST00000460831.1:n.381G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2001-46G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1913-46G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1721-46G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

1-43215823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215823
    reference: chr 1
allele count: 2
allele frequency: 2.198526986918765e-5
allele num: 90970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.477G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+34G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12514
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10314
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-43215824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215824
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215824
    reference: chr 1
allele count: 2
allele frequency: 2.162208912625138e-5
allele num: 92498
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+33C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+33C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+33C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+33C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+33C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+33C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.476C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11961
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12524
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17042
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-43215827-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215827
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215827
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 93468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+30C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+30C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+30C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+30C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+30C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.473C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+30C>G
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12451
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum

1-43215827-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215827
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215827
    reference: chr 1
allele count: 1
allele frequency: 1.06988488038687e-5
allele num: 93468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+30C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+30C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.473C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+30C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+30C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+30C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+30C>A
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-43215829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215829
    reference: chr 1
allele count: 10
allele frequency: 1.07054919173536e-4
allele num: 93410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+28G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+28G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+28G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+28G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.471G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+28G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+28G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14012
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

1-43215830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215830
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215830
    reference: chr 1
allele count: 14
allele frequency: 1.494385380641305e-4
allele num: 93684
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+27C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+27C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+27C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+27C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.470C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+27C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+27C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15625
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

1-43215832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215832
    reference: chr 1
allele count: 1
allele frequency: 1.056546361254332e-5
allele num: 94648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+25C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+25C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+25C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.468C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+25C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+25C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+25C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4780
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-43215836-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215836
    reference: chr 1
allele count: 3
allele frequency: 3.140506249607436e-5
allele num: 95526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.464A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+21A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+21A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+21A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+21A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+21A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+21A>G
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11911
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13687
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

1-43215837-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215837
    reference: chr 1
allele count: 1
allele frequency: 1.046813499706892e-5
allele num: 95528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+20C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.463C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+20C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+20C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+20C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+20C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+20C>A
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-43215847-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215847
    reference: chr 1
allele count: 1
allele frequency: 1.020220775775878e-5
allele num: 98018
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+10A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+10A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+10A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.453A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+10A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+10A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+10A>G
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 701
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11636
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20627
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
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genotype quality: GenotypeQuality
  all individuals: 87
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genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-43215853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215853
    reference: chr 1
allele count: 18
allele frequency: 1.801982180398438e-4
allele num: 99890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+4G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+4G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+4G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+4G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+4G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+4G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.447G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20739
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12012
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
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genotype quality: GenotypeQuality
  all individuals: 21082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1720+4G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

1-43215854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215854
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215854
    reference: chr 1
allele count: 1
allele frequency: 9.994203362050011e-6
allele num: 100058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1720+3G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.2000+3G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.446G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1720+3G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.642+3G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1912+3G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1720+3G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1720+3G>A
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-43215858-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215858
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215858
    reference: chr 1
allele count: 1
allele frequency: 9.831681610822715e-6
allele num: 101712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1719A>C
  hgvsp: ENSP00000296388.5:p.Glu573Asp
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1719A>C
  hgvsp: ENSP00000236040.4:p.Glu573Asp
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1911A>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1999A>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.442A>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1719A>C
  hgvsp: ENSP00000380245.3:p.Glu573Asp
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.641A>C
  hgvsp: ENST00000431412.1:c.641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu573Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-43215860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215860
    reference: chr 1
allele count: 4
allele frequency: 3.913664559810578e-5
allele num: 102206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1717G>A
  hgvsp: ENSP00000236040.4:p.Glu573Lys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1997G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.639G>A
  hgvsp: ENSP00000408056.1:p.Arg214Gln
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1717G>A
  hgvsp: ENSP00000380245.3:p.Glu573Lys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1717G>A
  hgvsp: ENSP00000296388.5:p.Glu573Lys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.440G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1909G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22825
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu573Lys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-43215861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215861
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215861
    reference: chr 1
allele count: 207
allele frequency: 2.02026116999473e-3
allele num: 102462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1908C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1996C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1716C>T
  hgvsp: ENST00000296388.5:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1716C>T
  hgvsp: ENST00000236040.4:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.638C>T
  hgvsp: ENSP00000408056.1:p.Arg214Ter
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.439C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1716C>T
  hgvsp: ENST00000397054.3:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23348
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 9.75e1
  variant carriers: 198
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10792
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg214Ter
num of homozygotes: 4
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-43215861-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215861
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215861
    reference: chr 1
allele count: 1
allele frequency: 9.759715797075989e-6
allele num: 102462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1716C>G
  hgvsp: ENSP00000380245.3:p.Ile572Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1908C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.439C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1716C>G
  hgvsp: ENSP00000296388.5:p.Ile572Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1716C>G
  hgvsp: ENSP00000236040.4:p.Ile572Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.638C>G
  hgvsp: ENSP00000408056.1:p.Arg214Gly
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1996C>G
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile572Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-43215868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215868
    reference: chr 1
allele count: 1
allele frequency: 9.533070220595245e-6
allele num: 104898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1989C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1709C>T
  hgvsp: ENSP00000380245.3:p.Thr570Ile
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.432C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.631C>T
  hgvsp: ENST00000431412.1:c.631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1709C>T
  hgvsp: ENSP00000296388.5:p.Thr570Ile
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1709C>T
  hgvsp: ENSP00000236040.4:p.Thr570Ile
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1901C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr570Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

1-43215871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215871
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215871
    reference: chr 1
allele count: 4
allele frequency: 3.781147200060498e-5
allele num: 105788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1898G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.628G>A
  hgvsp: ENST00000431412.1:c.628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1706G>A
  hgvsp: ENSP00000296388.5:p.Arg569His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1706G>A
  hgvsp: ENSP00000236040.4:p.Arg569His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1986G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1706G>A
  hgvsp: ENSP00000380245.3:p.Arg569His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.429G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25481
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg569His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

1-43215872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215872
    reference: chr 1
allele count: 5
allele frequency: 4.687880890322339e-5
allele num: 106658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1985C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.428C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1897C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.627C>T
  hgvsp: ENSP00000408056.1:p.Pro210Leu
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1705C>T
  hgvsp: ENSP00000296388.5:p.Arg569Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1705C>T
  hgvsp: ENSP00000380245.3:p.Arg569Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1705C>T
  hgvsp: ENSP00000236040.4:p.Arg569Cys
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg569Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

1-43215886-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215886
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215886
    reference: chr 1
allele count: 1
allele frequency: 9.005925899241701e-6
allele num: 111038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1691C>G
  hgvsp: ENSP00000380245.3:p.Ser564Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1691C>G
  hgvsp: ENSP00000296388.5:p.Ser564Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.613C>G
  hgvsp: ENST00000431412.1:c.613C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1883C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1971C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.414C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1691C>G
  hgvsp: ENSP00000236040.4:p.Ser564Cys
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser564Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

1-43215887-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215887
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215887
    reference: chr 1
allele count: 1
allele frequency: 8.992644017193935e-6
allele num: 111202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.413T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1690T>C
  hgvsp: ENSP00000380245.3:p.Ser564Pro
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.612T>C
  hgvsp: ENSP00000408056.1:p.Leu205Pro
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1690T>C
  hgvsp: ENSP00000236040.4:p.Ser564Pro
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1882T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1690T>C
  hgvsp: ENSP00000296388.5:p.Ser564Pro
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1970T>C
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser564Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-43215889-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215889
    reference: chr 1
allele count: 1
allele frequency: 8.979885057471264e-6
allele num: 111360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1968A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.610A>G
  hgvsp: ENST00000431412.1:c.610A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1688A>G
  hgvsp: ENSP00000380245.3:p.Tyr563Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1688A>G
  hgvsp: ENSP00000236040.4:p.Tyr563Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1688A>G
  hgvsp: ENSP00000296388.5:p.Tyr563Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.411A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1880A>G
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr563Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-43215891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215891
    reference: chr 1
allele count: 2
allele frequency: 1.788876764279709e-5
allele num: 111802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1966C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1686C>T
  hgvsp: ENST00000296388.5:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1686C>T
  hgvsp: ENST00000236040.4:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1878C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1686C>T
  hgvsp: ENST00000397054.3:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.409C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.608C>T
  hgvsp: ENST00000431412.1:c.608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser562Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-43215894-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215894
    reference: chr 1
allele count: 6
allele frequency: 5.338458253256459e-5
allele num: 112392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1683T>C
  hgvsp: ENST00000296388.5:c.1683T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1963T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1875T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.406T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1683T>C
  hgvsp: ENST00000236040.4:c.1683T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.605T>C
  hgvsp: ENSP00000408056.1:p.Phe203Leu
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1683T>C
  hgvsp: ENST00000397054.3:c.1683T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27708
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe203Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-43215906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215906
    reference: chr 1
allele count: 2
allele frequency: 1.756851721714687e-5
allele num: 113840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1951G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.394G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1863G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.593G>A
  hgvsp: ENSP00000408056.1:p.Ala199Thr
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1671G>A
  hgvsp: ENST00000397054.3:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1671G>A
  hgvsp: ENST00000236040.4:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1671G>A
  hgvsp: ENST00000296388.5:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4183
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala199Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-43215907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215907
    reference: chr 1
allele count: 1
allele frequency: 8.7631666579035e-6
allele num: 114114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1950C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.592C>T
  hgvsp: ENST00000431412.1:c.592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1670C>T
  hgvsp: ENSP00000380245.3:p.Thr557Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.393C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1670C>T
  hgvsp: ENSP00000236040.4:p.Thr557Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1862C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1670C>T
  hgvsp: ENSP00000296388.5:p.Thr557Met
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr557Met
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-43215907-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215907
    reference: chr 1
allele count: 1
allele frequency: 8.7631666579035e-6
allele num: 114114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1670C>A
  hgvsp: ENSP00000380245.3:p.Thr557Lys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1862C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1670C>A
  hgvsp: ENSP00000236040.4:p.Thr557Lys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.393C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1950C>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.592C>A
  hgvsp: ENSP00000408056.1:p.Tyr198Ter
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1670C>A
  hgvsp: ENSP00000296388.5:p.Thr557Lys
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr198Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

1-43215908-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215908
    reference: chr 1
allele count: 2
allele frequency: 1.747091093329606e-5
allele num: 114476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1949A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.591A>G
  hgvsp: ENSP00000408056.1:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1669A>G
  hgvsp: ENSP00000296388.5:p.Thr557Ala
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1861A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1669A>G
  hgvsp: ENSP00000236040.4:p.Thr557Ala
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1669A>G
  hgvsp: ENSP00000380245.3:p.Thr557Ala
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.392A>G
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr557Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-43215916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215916
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215916
    reference: chr 1
allele count: 1
allele frequency: 8.656809446310469e-6
allele num: 115516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1661G>A
  hgvsp: ENSP00000296388.5:p.Arg554His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1661G>A
  hgvsp: ENSP00000380245.3:p.Arg554His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1853G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.583G>A
  hgvsp: ENST00000431412.1:c.583G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1661G>A
  hgvsp: ENSP00000236040.4:p.Arg554His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.384G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1941G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg554His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

1-43215917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215917
    reference: chr 1
allele count: 23
allele frequency: 1.986697762805563e-4
allele num: 115770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.383C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1660C>T
  hgvsp: ENSP00000380245.3:p.Arg554Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1852C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1940C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1660C>T
  hgvsp: ENSP00000236040.4:p.Arg554Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.582C>T
  hgvsp: ENSP00000408056.1:p.Pro195Leu
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1660C>T
  hgvsp: ENSP00000296388.5:p.Arg554Cys
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29180
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg554Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

1-43215928-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215928
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215928
    reference: chr 1
allele count: 1
allele frequency: 8.543649505322693e-6
allele num: 117046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1649A>G
  hgvsp: ENSP00000296388.5:p.Glu550Gly
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1649A>G
  hgvsp: ENSP00000380245.3:p.Glu550Gly
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.571A>G
  hgvsp: ENST00000431412.1:c.571A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1929A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1649A>G
  hgvsp: ENSP00000236040.4:p.Glu550Gly
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.372A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1841A>G
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu550Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-43215930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215930
    reference: chr 1
allele count: 8448
allele frequency: 7.188808332482385e-2
allele num: 117516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1839G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1647G>A
  hgvsp: ENSP00000236040.4:p.Met549Ile
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.370G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.569G>A
  hgvsp: ENSP00000408056.1:p.Gly191Arg
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1647G>A
  hgvsp: ENSP00000380245.3:p.Met549Ile
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1647G>A
  hgvsp: ENSP00000296388.5:p.Met549Ile
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1927G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 932
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 14650
  bin: 2.75e1
  variant carriers: 1270
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.25e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 26803
  bin: 2.25e1
  variant carriers: 1036
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 1.75e1
  variant carriers: 596
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 630
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 1210
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 1134
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 32343
  bin: 6.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.25e1
  variant carriers: 28
hgvs: p.Met549Ile
num of homozygotes: 338
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-43215932-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215932
    reference: chr 1
allele count: 4
allele frequency: 3.397604688694471e-5
allele num: 117730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1645A>G
  hgvsp: ENSP00000236040.4:p.Met549Val
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1645A>G
  hgvsp: ENSP00000296388.5:p.Met549Val
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.368A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1837A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1925A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1645A>G
  hgvsp: ENSP00000380245.3:p.Met549Val
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.567A>G
  hgvsp: ENSP00000408056.1:p.His190Arg
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27832
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16456
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met549Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-43215937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215937
    reference: chr 1
allele count: 3
allele frequency: 2.545954478333927e-5
allele num: 117834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1640G>A
  hgvsp: ENSP00000296388.5:p.Arg547His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.363G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1640G>A
  hgvsp: ENSP00000380245.3:p.Arg547His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1832G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1640G>A
  hgvsp: ENSP00000236040.4:p.Arg547His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1920G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.562G>A
  hgvsp: ENST00000431412.1:c.562G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28031
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg547His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-43215940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215940
    reference: chr 1
allele count: 7
allele frequency: 5.927079981710725e-5
allele num: 118102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1637G>A
  hgvsp: ENSP00000296388.5:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.559G>A
  hgvsp: ENST00000431412.1:c.559G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1917G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.360G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1637G>A
  hgvsp: ENSP00000380245.3:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1637G>A
  hgvsp: ENSP00000236040.4:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1829G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37876
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg546Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-43215941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215941
    reference: chr 1
allele count: 6
allele frequency: 5.079150088885127e-5
allele num: 118130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1636C>T
  hgvsp: ENSP00000296388.5:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.558C>T
  hgvsp: ENSP00000408056.1:p.Ala187Val
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1636C>T
  hgvsp: ENSP00000380245.3:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.359C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1636C>T
  hgvsp: ENSP00000236040.4:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1828C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1916C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28250
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg546Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

1-43215951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215951
    reference: chr 1
allele count: 358
allele frequency: 3.018804283666414e-3
allele num: 118590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1626G>A
  hgvsp: ENST00000397054.3:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.349G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1626G>A
  hgvsp: ENST00000236040.4:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1818G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.548G>A
  hgvsp: ENSP00000408056.1:p.Gly184Arg
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1906G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1626G>A
  hgvsp: ENST00000296388.5:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17212
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 28712
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Gly184Arg
num of homozygotes: 8
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-43215952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215952
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215952
    reference: chr 1
allele count: 2
allele frequency: 1.685573179159573e-5
allele num: 118654
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1625C>T
  hgvsp: ENSP00000236040.4:p.Thr542Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.547C>T
  hgvsp: ENST00000431412.1:c.547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1625C>T
  hgvsp: ENSP00000296388.5:p.Thr542Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1817C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1905C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.348C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1625C>T
  hgvsp: ENSP00000380245.3:p.Thr542Met
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17334
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28769
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4870
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr542Met
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-43215956-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215956
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215956
    reference: chr 1
allele count: 3
allele frequency: 2.524360074721058e-5
allele num: 118842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1621G>C
  hgvsp: ENSP00000380245.3:p.Val541Leu
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1621G>C
  hgvsp: ENSP00000296388.5:p.Val541Leu
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1901G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1621G>C
  hgvsp: ENSP00000236040.4:p.Val541Leu
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1813G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.543G>C
  hgvsp: ENSP00000408056.1:p.Arg182Pro
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.344G>C
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val541Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-43215956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215956
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215956
    reference: chr 1
allele count: 1
allele frequency: 8.414533582403528e-6
allele num: 118842
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1621G>A
  hgvsp: ENSP00000236040.4:p.Val541Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.344G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.543G>A
  hgvsp: ENSP00000408056.1:p.Arg182His
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1621G>A
  hgvsp: ENSP00000296388.5:p.Val541Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1813G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1621G>A
  hgvsp: ENSP00000380245.3:p.Val541Met
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1901G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5414
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val541Met
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-43215957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215957
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215957
    reference: chr 1
allele count: 10
allele frequency: 8.407883231317684e-5
allele num: 118936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1620C>T
  hgvsp: ENST00000296388.5:c.1620C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1900C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.542C>T
  hgvsp: ENSP00000408056.1:p.Arg182Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1620C>T
  hgvsp: ENST00000397054.3:c.1620C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.343C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1620C>T
  hgvsp: ENST00000236040.4:c.1620C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1812C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17502
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29079
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg182Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-43215961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215961
    reference: chr 1
allele count: 1
allele frequency: 8.402372830087217e-6
allele num: 119014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1616A>G
  hgvsp: ENSP00000296388.5:p.Tyr539Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.339A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1808A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1616A>G
  hgvsp: ENSP00000236040.4:p.Tyr539Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1616A>G
  hgvsp: ENSP00000380245.3:p.Tyr539Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.538A>G
  hgvsp: ENST00000431412.1:c.538A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1896A>G
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17563
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr539Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

1-43215964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215964
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215964
    reference: chr 1
allele count: 2
allele frequency: 1.680474566017443e-5
allele num: 119014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.336A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1805A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1613A>G
  hgvsp: ENSP00000380245.3:p.Tyr538Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1613A>G
  hgvsp: ENSP00000296388.5:p.Tyr538Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.535A>G
  hgvsp: ENST00000431412.1:c.535A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1613A>G
  hgvsp: ENSP00000236040.4:p.Tyr538Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1893A>G
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr538Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-43215966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215966
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215966
    reference: chr 1
allele count: 1
allele frequency: 8.402372830087217e-6
allele num: 119014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.334G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1611G>A
  hgvsp: ENST00000397054.3:c.1611G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1611G>A
  hgvsp: ENST00000236040.4:c.1611G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1891G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.533G>A
  hgvsp: ENSP00000408056.1:p.Val179Ile
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1611G>A
  hgvsp: ENST00000296388.5:c.1611G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1803G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val179Ile
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: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

1-43215969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215969
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215969
    reference: chr 1
allele count: 4
allele frequency: 3.359312012899758e-5
allele num: 119072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.530C>T
  hgvsp: ENSP00000408056.1:p.Pro178Ser
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1800C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1608C>T
  hgvsp: ENST00000296388.5:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1608C>T
  hgvsp: ENST00000236040.4:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.331C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1888C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1608C>T
  hgvsp: ENST00000397054.3:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4872
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro178Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-43215976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215976
    reference: chr 1
allele count: 2
allele frequency: 1.681520094165125e-5
allele num: 118940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.324G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1881G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1601G>A
  hgvsp: ENSP00000236040.4:p.Ser534Asn
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.523G>A
  hgvsp: ENST00000431412.1:c.523G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1601G>A
  hgvsp: ENSP00000296388.5:p.Ser534Asn
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1793G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1601G>A
  hgvsp: ENSP00000380245.3:p.Ser534Asn
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser534Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS

1-43215977-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215977
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215977
    reference: chr 1
allele count: 1
allele frequency: 8.409297319116015e-6
allele num: 118916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.522A>G
  hgvsp: ENSP00000408056.1:p.Glu175Gly
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1600A>G
  hgvsp: ENSP00000380245.3:p.Ser534Gly
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1792A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1600A>G
  hgvsp: ENSP00000236040.4:p.Ser534Gly
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.323A>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1600A>G
  hgvsp: ENSP00000296388.5:p.Ser534Gly
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1880A>G
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser534Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-43215989-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215989
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215989
    reference: chr 1
allele count: 1
allele frequency: 8.442238206193226e-6
allele num: 118452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.510G>T
  hgvsp: ENSP00000408056.1:p.Ser171Ile
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1588G>T
  hgvsp: ENSP00000296388.5:p.Val530Phe
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1780G>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1588G>T
  hgvsp: ENSP00000236040.4:p.Val530Phe
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.311G>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1868G>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1588G>T
  hgvsp: ENSP00000380245.3:p.Val530Phe
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39539
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val530Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-43215990-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43215990
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43215990
    reference: chr 1
allele count: 1
allele frequency: 8.440670526866655e-6
allele num: 118474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.509A>T
  hgvsp: ENSP00000408056.1:p.Ser171Cys
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1587A>T
  hgvsp: ENSP00000380245.3:p.Lys529Asn
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.310A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1587A>T
  hgvsp: ENSP00000296388.5:p.Lys529Asn
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1779A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1587A>T
  hgvsp: ENSP00000236040.4:p.Lys529Asn
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1867A>T
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys529Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-43216008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216008
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216008
    reference: chr 1
allele count: 1
allele frequency: 8.502967535669949e-6
allele num: 117606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-1G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-1G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-1G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-1G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-1G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-1G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-1G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1570-1G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-43216014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216014
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216014
    reference: chr 1
allele count: 1
allele frequency: 8.524567804412315e-6
allele num: 117308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-7T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-7T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-7T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-7T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-7T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-7T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-7T>C
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1570-7T>C
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: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

1-43216018-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216018
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216018
    reference: chr 1
allele count: 3
allele frequency: 2.563883428766772e-5
allele num: 117010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-11C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-11C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-11C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-11C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-11C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-11C>G
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-11C>G
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16553
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4865
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-43216020-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216020
    reference: chr 1
allele count: 2
allele frequency: 1.713590486145621e-5
allele num: 116714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-13G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-13G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-13G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-13G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-13G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-13G>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-13G>C
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-43216030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216030
    reference: chr 1
allele count: 1
allele frequency: 8.613264427217915e-6
allele num: 116100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-23C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-23C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-23C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-23C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-23C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-23C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-23C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-43216038-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216038
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216037
    reference: chr 1
allele count: 1
allele frequency: 8.664009703690868e-6
allele num: 115420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-32delT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-32delT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-32delT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-32delT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-32delT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-32delT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-32delT
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: CA
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum

1-43216041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216041
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216041
    reference: chr 1
allele count: 2
allele frequency: 1.735779625418757e-5
allele num: 115222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-34G>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-34G>A
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5971
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS

1-43216042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216042
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216042
    reference: chr 1
allele count: 8
allele frequency: 6.961364427427775e-5
allele num: 114920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-35C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-35C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-35C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-35C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-35C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-35C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-35C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14614
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12019
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10196
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19243
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-43216046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216046
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216046
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 114466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-39C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-39C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-39C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-39C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-39C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-39C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-39C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-43216048-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216048
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216048
    reference: chr 1
allele count: 1
allele frequency: 8.733777009205401e-6
allele num: 114498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-41A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-41A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-41A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-41A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-41A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-41A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-41A>T
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15297
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-43216051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43216051
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43216051
    reference: chr 1
allele count: 12
allele frequency: 1.05333380148169e-4
allele num: 113924
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1570-44C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1570-44C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.293-44C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1570-44C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1850-44C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1762-44C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.492-44C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15493
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4863
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7191
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-43217271-T-TAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43217271
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43217275
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 8
alternate allele: TAAAA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.491+37_491+40dupTTTT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1569+670_1569+673dupTTTT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1569+670_1569+673dupTTTT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1849+670_1849+673dupTTTT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.292+670_292+673dupTTTT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1569+670_1569+673dupTTTT
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1761+670_1761+673dupTTTT
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

1-43217294-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43217294
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43217294
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 18
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.292+651T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1569+651T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1569+651T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.491+18T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1849+651T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1761+651T>C
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1569+651T>C
  variant of: http://identifiers.org/hgnc/19316
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-43217404-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43217404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43217404
    reference: chr 1
allele count: 1
allele frequency: 1.483679525222552e-3
allele num: 674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000394294
  ensembl transcript: ENST00000447502
  gene symbol: LEPRE1
  hgvsc: ENST00000447502.1:c.445T>A
  hgvsp: ENSP00000394294.1:p.Cys149Ter
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.399T>A
  hgvsp: ENSP00000408056.1:p.Val134Glu
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1569+541T>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1569+541T>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.292+541T>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1761+541T>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1569+541T>A
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1849+541T>A
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.25e1
  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: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5520
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys149Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-43217415-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43217415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43217415
    reference: chr 1
allele count: 5
allele frequency: 4.734848484848485e-3
allele num: 1056
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1569+530A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000394294
  ensembl transcript: ENST00000447502
  gene symbol: LEPRE1
  hgvsc: ENST00000447502.1:c.434A>T
  hgvsp: ENSP00000394294.1:p.Thr146Ser
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1569+530A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.392-4A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1849+530A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1761+530A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.292+530A>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1569+530A>T
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr146Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-43217458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43217458
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43217458
    reference: chr 1
allele count: 54
allele frequency: 1.950867052023121e-2
allele num: 2768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000380245
  ensembl transcript: ENST00000397054
  gene symbol: LEPRE1
  hgvsc: ENST00000397054.3:c.1569+487C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000394294
  ensembl transcript: ENST00000447502
  gene symbol: LEPRE1
  hgvsc: ENST00000447502.1:c.391C>T
  hgvsp: ENST00000447502.1:c.391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000495874
  gene symbol: LEPRE1
  hgvsc: ENST00000495874.1:n.1849+487C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000460031
  gene symbol: LEPRE1
  hgvsc: ENST00000460031.1:n.1761+487C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000408056
  ensembl transcript: ENST00000431412
  gene symbol: LEPRE1
  hgvsc: ENST00000431412.1:c.392-47C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000236040
  ensembl transcript: ENST00000236040
  gene symbol: LEPRE1
  hgvsc: ENST00000236040.4:c.1569+487C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl protein: ENSP00000296388
  ensembl transcript: ENST00000296388
  gene symbol: LEPRE1
  hgvsc: ENST00000296388.5:c.1569+487C>T
  variant of: http://identifiers.org/hgnc/19316
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117385
  ensembl transcript: ENST00000481465
  gene symbol: LEPRE1
  hgvsc: ENST00000481465.1:n.292+487C>T
  variant of: http://identifiers.org/hgnc/19316
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.5e0
  variant carriers: 20
hgvs: p.Pro131Pro
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 7938
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5901
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.251e0

MQRankSum
type: SiteQuality
SIO_000300: -4.627e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 4.82e0

DP
type: SiteQuality
SIO_000300: 1.663216e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.234e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7924
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.533e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.883e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.462e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.662701e6

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5904
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505451596431682e-5
allele num: 66586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.662891e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 6.313e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

QD
type: SiteQuality
SIO_000300: 1.547e1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

GenotypeQuality
all individuals: 1475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31428
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variant carriers: 0

GenotypeQuality
all individuals: 6035
bin: 9.75e1
variant carriers: 150

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.320774282751469e-4
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 130
allele frequency: 1.952479649154426e-3
allele num: 66582
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.887947631882942e-4
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.451241671714113e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.415011037527594e-3
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

QD
type: SiteQuality
SIO_000300: 1.318e1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e0

DP
type: SiteQuality
SIO_000300: 1.670157e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

GenotypeQuality
all individuals: 4425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 3263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.668093e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 3266
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variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

FS
type: SiteQuality
SIO_000300: 2.083e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.495e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 1.667688e6

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 6032
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.098102730217492e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505992970650966e-5
allele num: 66578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.301e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

DP
type: SiteQuality
SIO_000300: 1.668133e6

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 454
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.303441084462982e-4
allele num: 7672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.93393672159047e-5
allele num: 51708
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

QD
type: SiteQuality
SIO_000300: 7.98e0

DP
type: SiteQuality
SIO_000300: 1.105515e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

GenotypeQuality
all individuals: 969
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 918
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variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5007
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4117
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 515
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.727975270479135e-5
allele num: 12940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.904181582755732e-5
allele num: 52516
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

FS
type: SiteQuality
SIO_000300: 2.495e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.115116e6

GenotypeQuality
all individuals: 989
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13840
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5106
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1507
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4119
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53036
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.056e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 4.529e0

DP
type: SiteQuality
SIO_000300: 1.126904e6

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
all individuals: 4119
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6464
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13840
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
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variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.23395853899309e-4
allele num: 8104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.529e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.056e1

DP
type: SiteQuality
SIO_000300: 1.126904e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
all individuals: 4989
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4392
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4129
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1151
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13032
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 5.099439061703213e-4
allele num: 7844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.131861912846633e-4
allele num: 53010
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.139013e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.676e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.034e0

FS
type: SiteQuality
SIO_000300: 9.545999999999999e0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 927
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.880972086374238e-4
allele num: 53164
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.396248534583822e-4
allele num: 6824
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.230012300123001e-4
allele num: 8130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13058
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.246e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 1.145918e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 3.915e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

GenotypeQuality
all individuals: 937
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 628
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GenotypeQuality
all individuals: 1006
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.261034047919294e-4
allele num: 7930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6892
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.396e0

FS
type: SiteQuality
SIO_000300: 1.758e0

QD
type: SiteQuality
SIO_000300: 1.118e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.211e0

VQSLOD
type: SiteQuality
SIO_000300: -3.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.676e0

DP
type: SiteQuality
SIO_000300: 1.157281e6

GenotypeQuality
all individuals: 377
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 926
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 530
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4140
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1039
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.538938739337543e-5
allele num: 54162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4086
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.16e1

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.5383e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

DP
type: SiteQuality
SIO_000300: 1.178076e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

GenotypeQuality
all individuals: 1039
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17066
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variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2694
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variant carriers: 0

GenotypeQuality
all individuals: 1238
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variant carriers: 0

GenotypeQuality
all individuals: 462
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variant carriers: 0

GenotypeQuality
all individuals: 4570
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.549448890231014e-5
allele num: 13246
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.246e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 1.183418e6

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.517e0

QD
type: SiteQuality
SIO_000300: 1.089e1

GenotypeQuality
all individuals: 12897
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
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variant carriers: 0

GenotypeQuality
all individuals: 562
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variant carriers: 0

GenotypeQuality
all individuals: 1051
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variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 4077
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variant carriers: 0

GenotypeQuality
all individuals: 724
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variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.802256425044155e-5
allele num: 55486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.229662e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-1

FS
type: SiteQuality
SIO_000300: 3.882e0

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 3352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
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variant carriers: 0

GenotypeQuality
all individuals: 4172
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
all individuals: 411
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GenotypeQuality
all individuals: 1030
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1383
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variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.445086705202312e-3
allele num: 692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.012688736088467e-4
allele num: 56428
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

FS
type: SiteQuality
SIO_000300: 3.624e0

DP
type: SiteQuality
SIO_000300: 1.260999e6

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 435
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3380
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variant carriers: 0

GenotypeQuality
all individuals: 21313
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GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7324
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.119068934646374e-4
allele num: 8936
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.739e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.265958e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

GenotypeQuality
all individuals: 553
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
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GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 383
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1110
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 22937
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GenotypeQuality
all individuals: 3577
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.743739973495153e-5
allele num: 57348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13824
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.288197e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.511e0

FS
type: SiteQuality
SIO_000300: 1.871e0

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

QD
type: SiteQuality
SIO_000300: 1.003e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 268
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GenotypeQuality
all individuals: 1117
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GenotypeQuality
all individuals: 364
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GenotypeQuality
all individuals: 165
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GenotypeQuality
all individuals: 11133
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GenotypeQuality
all individuals: 1301
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 556
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GenotypeQuality
all individuals: 4164
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.19010641357492e-5
allele num: 13908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.327668613913967e-4
allele num: 7532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.475359699728922e-5
allele num: 57548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.185e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 5.711e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.29975e6

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1413
bin: 7.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1876
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variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 4.25e1
variant carriers: 2

Latino
type: Population
allele count: 2
allele frequency: 2.168726957276079e-4
allele num: 9222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

African
type: Population
allele count: 200
allele frequency: 2.309468822170901e-2
allele num: 8660
num of homozygotes: 3

South Asian
type: Population
allele count: 4
allele frequency: 2.870676044208411e-4
allele num: 13934
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.388888888888889e-3
allele num: 720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

FS
type: SiteQuality
SIO_000300: 1.954e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.316361e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

GenotypeQuality
all individuals: 549
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4328
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1096
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variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.73238167833137e-5
allele num: 57724
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.36e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 1.316361e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.954e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

GenotypeQuality
all individuals: 231
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9709
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2887
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variant carriers: 0

GenotypeQuality
all individuals: 569
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
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: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.693881699302121e-5
allele num: 59036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.234e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.1e0

FS
type: SiteQuality
SIO_000300: 8.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.352445e6

QD
type: SiteQuality
SIO_000300: 7.97e0

GenotypeQuality
all individuals: 643
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 579
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variant carriers: 0

GenotypeQuality
all individuals: 9122
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variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14270
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.285347043701799e-4
allele num: 7780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.048975058063213e-5
allele num: 59418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.588e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 1.370834e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.032e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 5.098e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

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

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
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variant carriers: 0

GenotypeQuality
all individuals: 2549
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variant carriers: 0

GenotypeQuality
all individuals: 1470
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variant carriers: 0

GenotypeQuality
all individuals: 27648
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variant carriers: 0

GenotypeQuality
all individuals: 1673
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variant carriers: 0

GenotypeQuality
all individuals: 1210
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variant carriers: 0

GenotypeQuality
all individuals: 755
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.688739507039899e-5
allele num: 59802
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.278772378516624e-4
allele num: 7820
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.374732e6

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.96e1

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 3.019e0

GenotypeQuality
all individuals: 656
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6424
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variant carriers: 0

GenotypeQuality
all individuals: 1579
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variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 4799
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
all individuals: 1440
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variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10468
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.068147831659902e-4
allele num: 9362
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.440098e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.66e0

QD
type: SiteQuality
SIO_000300: 1.664e1

MQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 1965
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variant carriers: 0

GenotypeQuality
all individuals: 6376
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GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 719
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1156
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GenotypeQuality
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GenotypeQuality
all individuals: 758
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variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613684040664838e-5
allele num: 61970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 1.44048e6

GenotypeQuality
all individuals: 6231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
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variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 3.25e1
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GenotypeQuality
all individuals: 873
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 758
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1502
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variant carriers: 0

GenotypeQuality
all individuals: 4722
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variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.611655492521919e-5
allele num: 62048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14954
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10526
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 6.78e0

DP
type: SiteQuality
SIO_000300: 1.44523e6

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 6.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.866e1

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6010
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.212232180141981e-5
allele num: 62262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.365e0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.452538e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1670
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.592326139088728e-5
allele num: 62550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.459769e6

QD
type: SiteQuality
SIO_000300: 1.474e1

VQSLOD
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.552221202987813e-5
allele num: 15262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580477936528006e-5
allele num: 63272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

FS
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 1.486112e6

QD
type: SiteQuality
SIO_000300: 8.24e0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577137810301864e-5
allele num: 63406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10850
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.409e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.124e1

DP
type: SiteQuality
SIO_000300: 1.493234e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 4634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15284
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.202212070209185e-4
allele num: 8318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.409e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 1.493234e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

GenotypeQuality
all individuals: 1332
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4186
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 33882
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4498
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.71939477303989e-4
allele num: 5816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572327044025157e-5
allele num: 63600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 9.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

DP
type: SiteQuality
SIO_000300: 1.496227e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

GenotypeQuality
all individuals: 1096
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64116
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023331968890708e-4
allele num: 9772
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15476
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.999e1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

DP
type: SiteQuality
SIO_000300: 1.51827e6

FS
type: SiteQuality
SIO_000300: 5.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

QD
type: SiteQuality
SIO_000300: 1.693e1

GenotypeQuality
all individuals: 3655
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 770
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35814
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 819
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.05935141749949e-4
allele num: 9806
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.182893539581438e-3
allele num: 10990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.340847526232213e-5
allele num: 64234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.43915003219575e-5
allele num: 15530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 1.524962e6

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 2.485e0

QD
type: SiteQuality
SIO_000300: 1.215e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4194
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 889
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.008267795926598e-4
allele num: 9918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 1.542723e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 712
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 494
bin: 8.75e1
variant carriers: 21

GenotypeQuality
all individuals: 796
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 4318
bin: 6.75e1
variant carriers: 30

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 827
bin: 4.75e1
variant carriers: 15

GenotypeQuality
all individuals: 986
bin: 8.25e1
variant carriers: 36

GenotypeQuality
all individuals: 11452
bin: 9.75e1
variant carriers: 7850

GenotypeQuality
all individuals: 1098
bin: 5.25e1
variant carriers: 19

European (Finnish)
type: Population
allele count: 527
allele frequency: 8.580267014001954e-2
allele num: 6142
num of homozygotes: 21

Other
type: Population
allele count: 56
allele frequency: 6.481481481481481e-2
allele num: 864
num of homozygotes: 1

East Asian
type: Population
allele count: 361
allele frequency: 4.236094813424079e-2
allele num: 8522
num of homozygotes: 9

African
type: Population
allele count: 265
allele frequency: 2.6670692431562e-2
allele num: 9936
num of homozygotes: 3

Latino
type: Population
allele count: 396
allele frequency: 3.552206673842842e-2
allele num: 11148
num of homozygotes: 8

South Asian
type: Population
allele count: 1573
allele frequency: 9.90803728898967e-2
allele num: 15876
num of homozygotes: 84

European (Non-Finnish)
type: Population
allele count: 5270
allele frequency: 8.10420126714646e-2
allele num: 65028
num of homozygotes: 212

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.573e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.376e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.759348e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

GenotypeQuality
all individuals: 1027
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.684937924572499e-4
allele num: 8538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65176
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.255e1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 4.762e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.625596e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
all individuals: 1600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.001602564102564e-4
allele num: 9984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533366045142296e-5
allele num: 65216
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.306760847628658e-5
allele num: 15856
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.084e1

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.965e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

DP
type: SiteQuality
SIO_000300: 1.63009e6

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4799
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 536
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.776435045317221e-4
allele num: 15888
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

DP
type: SiteQuality
SIO_000300: 1.635528e6

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

FS
type: SiteQuality
SIO_000300: 1.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.989e1

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
all individuals: 745
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4800
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.589682393978337e-5
allele num: 65364
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.259287243420224e-4
allele num: 15882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

DP
type: SiteQuality
SIO_000300: 1.639932e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 1.891e0

QD
type: SiteQuality
SIO_000300: 9.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 510
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5077
bin: 9.75e1
variant carriers: 348

GenotypeQuality
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5371
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.262443438914027e-3
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.874689385871495e-4
allele num: 11268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.575123528335265e-5
allele num: 65572
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.976143141153082e-4
allele num: 10060
num of homozygotes: 0

South Asian
type: Population
allele count: 339
allele frequency: 2.126191670847968e-2
allele num: 15944
num of homozygotes: 8

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.666485e6

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

FS
type: SiteQuality
SIO_000300: 5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.333e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.96e-2

GenotypeQuality
all individuals: 544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5399
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.865248226950355e-5
allele num: 11280
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.263309532757109e-5
allele num: 15966
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 2.838e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

DP
type: SiteQuality
SIO_000300: 1.656636e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

GenotypeQuality
all individuals: 333
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5414
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.654397451778446e-4
allele num: 11302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65656
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.65982e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

FS
type: SiteQuality
SIO_000300: 1.561e0

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 683
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

FS
type: SiteQuality
SIO_000300: 1.561e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.65982e6

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4876
bin: 9.75e1
variant carriers: 10

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

GenotypeQuality
all individuals: 5416
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.989748369058714e-4
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.977066034005536e-4
allele num: 10116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044603440401888e-5
allele num: 65690
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.204e1

FS
type: SiteQuality
SIO_000300: 1.107e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 1.661747e6

GenotypeQuality
all individuals: 1563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521606816798539e-5
allele num: 65720
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.883e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

DP
type: SiteQuality
SIO_000300: 1.662268e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

FS
type: SiteQuality
SIO_000300: 2.177e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 4869
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043491493441276e-5
allele num: 65714
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.662901e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 6.203e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

GenotypeQuality
all individuals: 40620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4868
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1067
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5455
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.571338780641106e-4
allele num: 6364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65710
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.049e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.817e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.34e0

DP
type: SiteQuality
SIO_000300: 1.664118e6

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5452
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.085686465433301e-5
allele num: 65728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.266e0

DP
type: SiteQuality
SIO_000300: 1.664776e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 3.72e0

QD
type: SiteQuality
SIO_000300: 1.212e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 40572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4869
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65670
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.924573243350536e-5
allele num: 10076
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.235969069593415e-5
allele num: 16036
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.662433e6

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 449
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5407
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variant carriers: 0

GenotypeQuality
all individuals: 482
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variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522904483430799e-5
allele num: 65664
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.66193e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

FS
type: SiteQuality
SIO_000300: 3.023e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5269
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variant carriers: 0

GenotypeQuality
all individuals: 389
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variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528257480820369e-5
allele num: 65434
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.651532e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.087e-1

FS
type: SiteQuality
SIO_000300: 9.837999999999999e0

QD
type: SiteQuality
SIO_000300: 1.136e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.487e0

GenotypeQuality
all individuals: 386
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2506
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
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variant carriers: 0

GenotypeQuality
all individuals: 39803
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.000400160064026e-4
allele num: 9996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65446
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.647e0

DP
type: SiteQuality
SIO_000300: 1.651568e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.853e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.776e1

GenotypeQuality
all individuals: 37847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1005
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4866
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4950
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537657225451303e-5
allele num: 65034
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.62536e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -2.737e0

QD
type: SiteQuality
SIO_000300: 2.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.926e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

GenotypeQuality
all individuals: 383
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 509
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.014816318246397e-4
allele num: 9854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.608792e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

FS
type: SiteQuality
SIO_000300: 8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.636211905792174e-5
allele num: 64708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.447e0

InbreedingCoeff
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SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 6.97e-1

DP
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SIO_000300: 1.591226e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9772
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.095687707024115e-5
allele num: 64606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

VQSLOD
type: SiteQuality
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FS
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: -8.0e-4

MQRankSum
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SIO_000300: 8.5e-1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

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

Other
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allele frequency: 0.0e0
allele num: 862
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European (Non-Finnish)
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allele frequency: 1.555113212241851e-5
allele num: 64304
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

InbreedingCoeff
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SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

MQ
type: SiteQuality
SIO_000300: 5.79e1

BaseQRankSum
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SIO_000300: -3.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 1.51964e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 15472
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.159186664224217e-5
allele num: 10918
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.209e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
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DP
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SIO_000300: 1.461302e6

InbreedingCoeff
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SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.52e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.133322888923704e-5
allele num: 63830
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15438
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 1.441326e6

QD
type: SiteQuality
SIO_000300: 1.399e1

FS
type: SiteQuality
SIO_000300: 2.391e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041016031646887e-4
allele num: 9606
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 8.339289969025494e-4
allele num: 8394
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63660
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.345e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 6.821e0

QD
type: SiteQuality
SIO_000300: 1.093e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.428522e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63436
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 850
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.256544502617801e-3
allele num: 9550
num of homozygotes: 0

Latino
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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European (Finnish)
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DP
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QD
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: NaN
allele num: 0
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South Asian
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allele frequency: NaN
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Latino
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allele frequency: NaN
allele num: 0
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Other
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allele frequency: NaN
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African
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allele frequency: NaN
allele num: 0
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East Asian
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FS
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.2435e4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.003e-1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

GenotypeQuality
all individuals: 132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 157
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.777777777777778e-2
allele num: 36
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.033e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.787e-1

FS
type: SiteQuality
SIO_000300: 7.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 5.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.809999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.4104e4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 32
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5449
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 6.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.0e-1
allele num: 40
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.25e-2
allele num: 16
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.5275e1

DP
type: SiteQuality
SIO_000300: 3.735e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.12e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

VQSLOD
type: SiteQuality
SIO_000300: -2.779e-1

MQ
type: SiteQuality
SIO_000300: 5.522e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1