http://identifiers.org/exac.variant/8-75157415-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157415
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157417
    reference: chr 8
allele count: 1
allele frequency: 9.121091612244154e-6
allele num: 109636
alternate allele: CAA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-6_1259-5insTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-6_*654-5insTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1259-6_1259-5insTT
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

8-75157415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157415
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157415
    reference: chr 8
allele count: 32
allele frequency: 2.918749315918129e-4
allele num: 109636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-5G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-5G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8405
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12566
  bin: 9.75e1
  variant carriers: 29
hgvs: c.1259-5G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-75157416-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157416
    reference: chr 8
allele count: 7
allele frequency: 7.916402786573781e-5
allele num: 88424
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-6G>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-6G>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 2.25e1
  variant carriers: 1
hgvs: c.1259-6G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/8-75157416-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157417
    reference: chr 8
allele count: 2220
allele frequency: 2.510630598027685e-2
allele num: 88424
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-7dupT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-7dupT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.75e1
  variant carriers: 443
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 1.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.25e1
  variant carriers: 546
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 4.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 509
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 5.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 1024
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.5e0
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 213
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 14027
  bin: 6.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 2.25e1
  variant carriers: 186
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 2.5e0
  variant carriers: 200
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 204
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 3.25e1
  variant carriers: 126
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 46
hgvs: c.1259-7dupT
num of homozygotes: 8
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/8-75157416-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157418
    reference: chr 8
allele count: 1293
allele frequency: 1.462272686148557e-2
allele num: 88424
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-8_*654-7dupTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-8_1259-7dupTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 4.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.5e0
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.25e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.75e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 1.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 14027
  bin: 6.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 3.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 2.5e0
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 1112
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 22
hgvs: c.1259-8_1259-7dupTT
num of homozygotes: 37
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-75157416-C-CAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157419
    reference: chr 8
allele count: 76
allele frequency: 8.594951596851534e-4
allele num: 88424
alternate allele: CAAA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-9_1259-7dupTTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-9_*654-7dupTTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14027
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 4
hgvs: c.1259-9_1259-7dupTTT
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/8-75157416-C-CAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157420
    reference: chr 8
allele count: 7
allele frequency: 7.916402786573781e-5
allele num: 88424
alternate allele: CAAAA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-10_*654-7dupTTTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-10_1259-7dupTTTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1259-10_1259-7dupTTTT
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/8-75157416-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157415
    reference: chr 8
allele count: 1371
allele frequency: 1.550484031484665e-2
allele num: 88424
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-7delT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-7delT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 1.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.75e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.25e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 4.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.5e0
  variant carriers: 128
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 3.25e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 2.25e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 2.5e0
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 14027
  bin: 6.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 9.75e1
  variant carriers: 497
hgvs: c.1259-7delT
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: CA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-75157420-A-AAAAAAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157420
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157427
    reference: chr 8
allele count: 1
allele frequency: 9.128085292828975e-6
allele num: 109552
alternate allele: AAAAAAAG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-17_1259-11dupCTTTTTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-17_*654-11dupCTTTTTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8886
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11210
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-75157420-AAAAAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157420
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157413
    reference: chr 8
allele count: 32
allele frequency: 2.920987293705272e-4
allele num: 109552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-17_*654-11delCTTTTTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-17_1259-11delCTTTTTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.5e0
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 7.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15123
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.5e0
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27898
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 6317
  bin: 2.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8886
  bin: 6.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 2.574223442594817e-4
  allele num: 11654
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: AAAAAAAG
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

8-75157422-AAAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157422
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157417
    reference: chr 8
allele count: 2
allele frequency: 1.940843102243615e-5
allele num: 103048
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-17_1259-13delCTTTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-17_*654-13delCTTTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14932
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 60176
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: AAAAAG
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

8-75157423-AAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157423
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157419
    reference: chr 8
allele count: 2
allele frequency: 1.944919869301385e-5
allele num: 102832
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-17_1259-14delCTTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-17_*654-14delCTTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13370
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7894
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6486
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: AAAAG
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-75157424-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157424
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157421
    reference: chr 8
allele count: 4
allele frequency: 3.892413685726519e-5
allele num: 102764
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-17_1259-15delCTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-17_*654-15delCTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7688
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: AAAG
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-75157425-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157425
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157423
    reference: chr 8
allele count: 10
allele frequency: 9.73065545695158e-5
allele num: 102768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-17_*654-16delCT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-17_1259-16delCT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15009
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13403
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7068
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 3
  allele frequency: 2.763957987838585e-4
  allele num: 10854
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: AAG
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

8-75157426-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157426
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157425
    reference: chr 8
allele count: 13
allele frequency: 1.272438971869311e-4
allele num: 102166
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-17delC
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-17delC
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15036
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 8007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6924
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6478
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: AG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

8-75157427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157427
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157427
    reference: chr 8
allele count: 793
allele frequency: 8.020146446053643e-3
allele num: 98876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-17C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-17C>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 3.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 15118
  bin: 2.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 2.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 25780
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 6459
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 1.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 581
num of homozygotes: 56
population: Latino
  type: Population
  allele count: 31
  allele frequency: 2.936718453959833e-3
  allele num: 10556
  num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

8-75157427-G-GAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157427
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157429
    reference: chr 8
allele count: 1
allele frequency: 1.011367773777256e-5
allele num: 98876
alternate allele: GAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-19_1259-18dupTT
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-19_*654-18dupTT
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10556
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-75157434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157434
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157434
    reference: chr 8
allele count: 37
allele frequency: 3.655620763925939e-4
allele num: 101214
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-24C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-24C>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12146
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16768
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 5346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 8
  allele frequency: 1.37164803511419e-4
  allele num: 58324
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

8-75157441-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157441
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157441
    reference: chr 8
allele count: 11
allele frequency: 1.086376834495427e-4
allele num: 101254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-31T>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-31T>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13149
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4775
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7466
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-75157442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157442
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157442
    reference: chr 8
allele count: 2
allele frequency: 1.99405770803007e-5
allele num: 100298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-32C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-32C>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4561
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8486
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

8-75157443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157443
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157443
    reference: chr 8
allele count: 2
allele frequency: 1.993699908289804e-5
allele num: 100316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-33T>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-33T>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8568
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

8-75157450-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157450
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157450
    reference: chr 8
allele count: 1
allele frequency: 1.041428006081939e-5
allele num: 96022
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-40C>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-40C>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 54842
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

8-75157460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157460
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157460
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 88180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-50T>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-50T>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 50172
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

8-75157461-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75157461
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75157461
    reference: chr 8
allele count: 1
allele frequency: 1.169919041602321e-5
allele num: 85476
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1259-51A>G
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*654-51A>G
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9742
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

8-75171571-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171571
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171571
    reference: chr 8
allele count: 1
allele frequency: 8.387432271484408e-6
allele num: 119226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+49T>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+49T>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9868
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1265
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  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

8-75171580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171580
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171580
    reference: chr 8
allele count: 1
allele frequency: 8.381808123648433e-6
allele num: 119306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+40G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+40G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10244
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

8-75171583-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171583
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171583
    reference: chr 8
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+37A>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+37A>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 478
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1967
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 9841
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 886
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

8-75171585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171585
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171585
    reference: chr 8
allele count: 1
allele frequency: 8.378718056137411e-6
allele num: 119350
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+35G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+35G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27181
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 39938
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genotype quality: GenotypeQuality
  all individuals: 472
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1262
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genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8616
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

8-75171586-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171586
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171586
    reference: chr 8
allele count: 1
allele frequency: 8.372404554588077e-6
allele num: 119440
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+34A>G
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+34A>G
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11508
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 27194
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10248
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

8-75171592-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171592
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171592
    reference: chr 8
allele count: 1
allele frequency: 8.364281173675934e-6
allele num: 119556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+28G>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+28G>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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genotype quality: GenotypeQuality
  all individuals: 193
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10260
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

8-75171595-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171595
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171595
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 119670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+25T>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+25T>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40810
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum

8-75171597-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171597
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171597
    reference: chr 8
allele count: 1
allele frequency: 8.357709987463435e-6
allele num: 119650
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+23G>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+23G>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.516346212167162e-5
  allele num: 65948
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-75171616-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171616
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171616
    reference: chr 8
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+4A>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+4A>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1258+4A>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

8-75171619-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171619
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171619
    reference: chr 8
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*653+1G>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1258+1G>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1258+1G>C
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.159285879897983e-4
  allele num: 8626
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

8-75171622-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171622
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171622
    reference: chr 8
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1256C>G
  hgvsp: ENSP00000344488.4:p.Pro419Arg
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*651C>G
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10070
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro419Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-75171629-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171629
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171629
    reference: chr 8
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*644T>G
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1249T>G
  hgvsp: ENSP00000344488.4:p.Tyr417Asp
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr417Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.509023963300537e-5
  allele num: 66268
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

8-75171630-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171630
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171630
    reference: chr 8
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1248C>A
  hgvsp: ENSP00000344488.4:p.Phe416Leu
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*643C>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10086
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genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1252
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genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe416Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.509023963300537e-5
  allele num: 66268
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-75171663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171663
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171663
    reference: chr 8
allele count: 2
allele frequency: 1.658649859014762e-5
allele num: 120580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1215G>A
  hgvsp: ENST00000342232.4:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*610G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42459
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10064
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala405Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.019597185735423e-5
  allele num: 66234
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-75171666-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171666
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171666
    reference: chr 8
allele count: 2
allele frequency: 1.658759911090469e-5
allele num: 120572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*607C>G
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1212C>G
  hgvsp: ENSP00000344488.4:p.Ile404Met
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42557
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile404Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-75171671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171671
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171671
    reference: chr 8
allele count: 6
allele frequency: 4.982643790795396e-5
allele num: 120418
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1207G>A
  hgvsp: ENSP00000344488.4:p.Asp403Asn
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*602G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12744
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10036
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Asp403Asn
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.512401693889897e-5
  allele num: 66120
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

8-75171672-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171672
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171672
    reference: chr 8
allele count: 7
allele frequency: 5.819076595673932e-5
allele num: 120294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*601C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1206C>T
  hgvsp: ENST00000342232.4:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13824
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 245
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys402Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8620
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

8-75171674-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171674
    reference: chr 8
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*599T>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1204T>C
  hgvsp: ENSP00000344488.4:p.Cys402Arg
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 9940
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys402Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6608
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-75171677-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171677
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171677
    reference: chr 8
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1201G>C
  hgvsp: ENSP00000344488.4:p.Glu401Gln
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*596G>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu401Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11512
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-75171679-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171679
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171679
    reference: chr 8
allele count: 1
allele frequency: 8.340422692622062e-6
allele num: 119898
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1199A>T
  hgvsp: ENSP00000344488.4:p.Gln400Leu
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*594A>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln400Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11496
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

8-75171682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171682
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171682
    reference: chr 8
allele count: 6
allele frequency: 5.022685797518794e-5
allele num: 119458
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1196G>A
  hgvsp: ENSP00000344488.4:p.Arg399His
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*591G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13271
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg399His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6578
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

8-75171683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171683
    reference: chr 8
allele count: 5
allele frequency: 4.191255364806867e-5
allele num: 119296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1195C>T
  hgvsp: ENSP00000344488.4:p.Arg399Cys
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*590C>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 9721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 184
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genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg399Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-75171686-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171686
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171686
    reference: chr 8
allele count: 6
allele frequency: 5.091563279645627e-5
allele num: 117842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*587G>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1192G>T
  hgvsp: ENSP00000344488.4:p.Ala398Ser
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 576
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala398Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64650
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-75171687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171687
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171687
    reference: chr 8
allele count: 4
allele frequency: 3.39397230518599e-5
allele num: 117856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1191C>T
  hgvsp: ENST00000342232.4:c.1191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*586C>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala397Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6494
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-75171693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171693
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171693
    reference: chr 8
allele count: 269
allele frequency: 2.300285611670743e-3
allele num: 116942
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1185G>A
  hgvsp: ENST00000342232.4:c.1185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*580G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13032
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27155
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 11455
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 264
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 529
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genotype quality: GenotypeQuality
  all individuals: 8581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 2
hgvs: p.Ala395Ala
num of homozygotes: 2
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9890
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

8-75171694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171694
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171694
    reference: chr 8
allele count: 1
allele frequency: 8.574711460959339e-6
allele num: 116622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*579C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1184C>T
  hgvsp: ENSP00000344488.4:p.Ala395Val
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala395Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6434
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

8-75171694-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171694
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171694
    reference: chr 8
allele count: 1
allele frequency: 8.574711460959339e-6
allele num: 116622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*579C>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1184C>A
  hgvsp: ENSP00000344488.4:p.Ala395Glu
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8596
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala395Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6434
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

8-75171695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171695
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171695
    reference: chr 8
allele count: 2
allele frequency: 1.748985588358752e-5
allele num: 114352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*578G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1183G>A
  hgvsp: ENSP00000344488.4:p.Ala395Thr
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala395Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10928
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-75171696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171696
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171696
    reference: chr 8
allele count: 1
allele frequency: 8.746457684637721e-6
allele num: 114332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*577C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1182C>T
  hgvsp: ENST00000342232.4:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25795
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala394Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.325910931174089e-5
  allele num: 15808
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

8-75171696-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171696
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171696
    reference: chr 8
allele count: 1
allele frequency: 8.746457684637721e-6
allele num: 114332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1182C>G
  hgvsp: ENST00000342232.4:c.1182C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*577C>G
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala394Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10920
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

8-75171701-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171701
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171701
    reference: chr 8
allele count: 1
allele frequency: 8.861163293517173e-6
allele num: 112852
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1177C>A
  hgvsp: ENSP00000344488.4:p.Gln393Lys
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*572C>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln393Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15628
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

8-75171704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171704
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171704
    reference: chr 8
allele count: 7
allele frequency: 6.441401648998822e-5
allele num: 108672
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1174G>A
  hgvsp: ENSP00000344488.4:p.Asp392Asn
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*569G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22515
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp392Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 848
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

8-75171705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171705
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171705
    reference: chr 8
allele count: 5
allele frequency: 4.60294957008451e-5
allele num: 108626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*568C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1173C>T
  hgvsp: ENST00000342232.4:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 32801
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala391Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6050
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

8-75171708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171708
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171708
    reference: chr 8
allele count: 1
allele frequency: 9.250351513357507e-6
allele num: 108104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*565C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1170C>T
  hgvsp: ENST00000342232.4:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1120
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 560
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genotype quality: GenotypeQuality
  all individuals: 272
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genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala390Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15122
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

8-75171713-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171713
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171713
    reference: chr 8
allele count: 1
allele frequency: 9.798349957867095e-6
allele num: 102058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*560G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1165G>A
  hgvsp: ENSP00000344488.4:p.Asp389Asn
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp389Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5752
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

8-75171714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171714
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171714
    reference: chr 8
allele count: 9
allele frequency: 8.876965261475944e-5
allele num: 101386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*559C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1164C>T
  hgvsp: ENST00000342232.4:c.1164C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17563
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13036
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala388Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 806
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

8-75171724-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171724
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171724
    reference: chr 8
allele count: 1
allele frequency: 1.066484653285839e-5
allele num: 93766
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1154G>C
  hgvsp: ENSP00000344488.4:p.Arg385Thr
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*549G>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg385Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.944768572539868e-5
  allele num: 51420
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

8-75171744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171744
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171744
    reference: chr 8
allele count: 1
allele frequency: 1.268681332622872e-5
allele num: 78822
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-6G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-6G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10307
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1140-6G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

8-75171744-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171744
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171743
    reference: chr 8
allele count: 1
allele frequency: 1.268681332622872e-5
allele num: 78822
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-7delC
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-7delC
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1140-7delC
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: CG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

8-75171745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171745
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171745
    reference: chr 8
allele count: 18
allele frequency: 2.302968270214944e-4
allele num: 78160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-7C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-7C>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18468
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21652
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1140-7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-75171750-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171750
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171750
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 73842
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-12T>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-12T>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19633
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7002
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

8-75171759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171759
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171759
    reference: chr 8
allele count: 5
allele frequency: 7.556751201523441e-5
allele num: 66166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-21G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-21G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20876
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22864
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
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genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1871
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 6175
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 483
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genotype quality: GenotypeQuality
  all individuals: 4856
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1029
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 104
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 518
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

8-75171760-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171760
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171760
    reference: chr 8
allele count: 4
allele frequency: 6.125199068969742e-5
allele num: 65304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-22C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-22C>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 555
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22667
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
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genotype depth: GenotypeDepth
  all individuals: 43
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genotype quality: GenotypeQuality
  all individuals: 4107
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genotype quality: GenotypeQuality
  all individuals: 408
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 269
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10152
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

8-75171763-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171763
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171763
    reference: chr 8
allele count: 2
allele frequency: 3.238971302714258e-5
allele num: 61748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-25A>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-25A>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21631
  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
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genotype quality: GenotypeQuality
  all individuals: 252
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 4.633920296570899e-4
  allele num: 4316
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

8-75171768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171768
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171768
    reference: chr 8
allele count: 3
allele frequency: 5.133645915329067e-5
allele num: 58438
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-30T>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-30T>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20536
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4874
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 3.215434083601286e-4
  allele num: 9330
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

8-75171772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171772
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171772
    reference: chr 8
allele count: 1
allele frequency: 1.851508979818552e-5
allele num: 54010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-34C>T
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-34C>T
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4078
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 145
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genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3082
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-75171775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171775
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171775
    reference: chr 8
allele count: 2682
allele frequency: 5.214246831013298e-2
allele num: 51436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-37T>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-37T>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 9121
  bin: 2.5e0
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 17939
  bin: 1.25e1
  variant carriers: 1255
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.25e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 24445
  bin: 7.5e0
  variant carriers: 1120
genotype depth: GenotypeDepth
  all individuals: 38
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 1.75e1
  variant carriers: 562
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 1.75e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 9914
  bin: 7.5e0
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 564
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  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 21510
  bin: 2.25e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 228
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  variant carriers: 72
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 3.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 6.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 9.75e1
  variant carriers: 2215
num of homozygotes: 304
population: South Asian
  type: Population
  allele count: 363
  allele frequency: 4.254571026722925e-2
  allele num: 8532
  num of homozygotes: 12
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

8-75171779-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171779
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171779
    reference: chr 8
allele count: 1
allele frequency: 2.049936451969989e-5
allele num: 48782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-41G>C
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-41G>C
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25373
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
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genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 260
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 595
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genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 22364
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8134
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

8-75171779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171779
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171779
    reference: chr 8
allele count: 1
allele frequency: 2.049936451969989e-5
allele num: 48782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-41G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-41G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4711
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 595
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2846
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-75171786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75171786
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75171786
    reference: chr 8
allele count: 1
allele frequency: 2.229157378510923e-5
allele num: 44860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*535-48G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1140-48G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15261
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2250
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17616
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2516
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

8-75227045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75227045
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75227045
    reference: chr 8
allele count: 15
allele frequency: 1.247525740614448e-4
allele num: 120238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1139+51G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*534+51G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14699
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4037
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1512
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 164
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 180
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genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3533
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  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 511
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66046
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-75227048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75227048
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75227048
    reference: chr 8
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*534+48G>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1139+48G>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27840
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

8-75227049-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75227049
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 75227049
    reference: chr 8
allele count: 4
allele frequency: 3.326071410753189e-5
allele num: 120262
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000344488
  ensembl transcript: ENST00000342232
  gene symbol: JPH1
  hgvsc: ENST00000342232.4:c.1139+47T>A
  variant of: http://identifiers.org/hgnc/14201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104369
  ensembl protein: ENSP00000429652
  ensembl transcript: ENST00000519947
  gene symbol: JPH1
  hgvsc: ENST00000519947.1:c.*534+47T>A
  variant of: http://identifiers.org/hgnc/14201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9948
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population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.276813074565884e-4
allele num: 7832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11922
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63114
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.143e0

QD
type: SiteQuality
SIO_000300: 1.176e1

DP
type: SiteQuality
SIO_000300: 2.350806e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

South Asian
type: Population
allele count: 32
allele frequency: 2.68411340379131e-3
allele num: 11922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.143e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 2.350806e6

QD
type: SiteQuality
SIO_000300: 1.176e1

MQ
type: SiteQuality
SIO_000300: 5.986e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

South Asian
type: Population
allele count: 1
allele frequency: 1.178411501296253e-4
allele num: 8486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6702
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.062787136294027e-4
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.800616248683646e-5
allele num: 51278
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.337519e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.414e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 4.18e0

European (Non-Finnish)
type: Population
allele count: 1387
allele frequency: 2.704863684231054e-2
allele num: 51278
num of homozygotes: 4

East Asian
type: Population
allele count: 94
allele frequency: 1.402566398090122e-2
allele num: 6702
num of homozygotes: 0

Latino
type: Population
allele count: 154
allele frequency: 1.753986332574032e-2
allele num: 8780
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.524390243902439e-2
allele num: 656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 171
allele frequency: 2.853805073431242e-2
allele num: 5992
num of homozygotes: 1

African
type: Population
allele count: 242
allele frequency: 3.705972434915773e-2
allele num: 6530
num of homozygotes: 3

South Asian
type: Population
allele count: 162
allele frequency: 1.909026632099929e-2
allele num: 8486
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 4.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.414e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.337519e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 110
allele frequency: 1.252847380410023e-2
allele num: 8780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.668891855807744e-4
allele num: 5992
num of homozygotes: 0

African
type: Population
allele count: 954
allele frequency: 1.460949464012251e-1
allele num: 6530
num of homozygotes: 36

South Asian
type: Population
allele count: 157
allele frequency: 1.850106057035117e-2
allele num: 8486
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.829268292682927e-2
allele num: 656
num of homozygotes: 1

East Asian
type: Population
allele count: 5
allele frequency: 7.460459564309161e-4
allele num: 6702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 1.053083193572292e-3
allele num: 51278
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.414e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 2.337519e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

East Asian
type: Population
allele count: 4
allele frequency: 5.968367651447329e-4
allele num: 6702
num of homozygotes: 0

African
type: Population
allele count: 47
allele frequency: 7.197549770290965e-3
allele num: 6530
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.668891855807744e-4
allele num: 5992
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.524390243902439e-3
allele num: 656
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.416856492027335e-4
allele num: 8780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.31526190569055e-4
allele num: 51278
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.535234503888758e-4
allele num: 8486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.414e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 4.18e0

DP
type: SiteQuality
SIO_000300: 2.337519e6

East Asian
type: Population
allele count: 1
allele frequency: 1.492091912861832e-4
allele num: 6702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.850462186512735e-5
allele num: 51278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.594180704441041e-4
allele num: 6530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.414e-1

DP
type: SiteQuality
SIO_000300: 2.337519e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 4.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.837116154873164e-3
allele num: 5992
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.524390243902439e-2
allele num: 656
num of homozygotes: 0

South Asian
type: Population
allele count: 101
allele frequency: 1.190195616309215e-2
allele num: 8486
num of homozygotes: 0

Latino
type: Population
allele count: 104
allele frequency: 1.184510250569476e-2
allele num: 8780
num of homozygotes: 0

African
type: Population
allele count: 41
allele frequency: 6.278713629402756e-3
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1014
allele frequency: 1.977456219041304e-2
allele num: 51278
num of homozygotes: 0

East Asian
type: Population
allele count: 84
allele frequency: 1.253357206803939e-2
allele num: 6702
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.414e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 2.337519e6

QD
type: SiteQuality
SIO_000300: 4.18e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605084908991686e-5
allele num: 62302
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.164e0

VQSLOD
type: SiteQuality
SIO_000300: -5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

QD
type: SiteQuality
SIO_000300: 2.2e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.812607e6

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.815254726975057e-5
allele num: 62302
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.808988764044944e-3
allele num: 8900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.920606601248885e-5
allele num: 11210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 1.812607e6

QD
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.164e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.19793966151582e-5
allele num: 10872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.420454545454545e-4
allele num: 7040
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: -8.68e-1

MQ
type: SiteQuality
SIO_000300: 5.872e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.383e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

DP
type: SiteQuality
SIO_000300: 1.645724e6

FS
type: SiteQuality
SIO_000300: 1.4155e1

MQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

QD
type: SiteQuality
SIO_000300: 2.3e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.204712812960235e-5
allele num: 10864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60180
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.469723691945914e-4
allele num: 6804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.24e-1

DP
type: SiteQuality
SIO_000300: 1.641213e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.687e1

FS
type: SiteQuality
SIO_000300: 1.3074e1

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10862
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.908419497784342e-4
allele num: 6770
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60170
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

DP
type: SiteQuality
SIO_000300: 1.640203e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 3.32e0

FS
type: SiteQuality
SIO_000300: 1.8123e1

MQ
type: SiteQuality
SIO_000300: 5.827e1

VQSLOD
type: SiteQuality
SIO_000300: -2.685e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
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African
type: Population
allele count: 6
allele frequency: 8.857395925597874e-4
allele num: 6774
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.662399840409615e-5
allele num: 60154
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MQ
type: SiteQuality
SIO_000300: 5.87e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 2.547e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e0

DP
type: SiteQuality
SIO_000300: 1.640466e6

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 1.63e0

Other
type: Population
allele count: 1
allele frequency: 1.344086021505376e-3
allele num: 744
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African
type: Population
allele count: 7
allele frequency: 1.019516457908535e-3
allele num: 6866
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10808
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East Asian
type: Population
allele count: 1
allele frequency: 1.310272536687631e-4
allele num: 7632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.014816318246397e-4
allele num: 9854
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.018065034122842e-5
allele num: 59784
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.951e-1

DP
type: SiteQuality
SIO_000300: 1.636428e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.58e-1

MQ
type: SiteQuality
SIO_000300: 5.754e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

FS
type: SiteQuality
SIO_000300: 1.158e0

QD
type: SiteQuality
SIO_000300: 3.05e0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.1201248049922e-4
allele num: 6410
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 8.287292817679558e-3
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African
type: Population
allele count: 563
allele frequency: 8.772203178560299e-2
allele num: 6418
num of homozygotes: 49

East Asian
type: Population
allele count: 26
allele frequency: 3.475935828877006e-3
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South Asian
type: Population
allele count: 20
allele frequency: 2.141327623126338e-3
allele num: 9340
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 145
allele frequency: 2.502243390626079e-3
allele num: 57948
num of homozygotes: 3

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 8.17e0

DP
type: SiteQuality
SIO_000300: 1.625605e6

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.91e-1

MQ
type: SiteQuality
SIO_000300: 5.699e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.89e-2

FS
type: SiteQuality
SIO_000300: 1.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
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African
type: Population
allele count: 1
allele frequency: 1.558117793705204e-4
allele num: 6418
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MQ
type: SiteQuality
SIO_000300: 5.699e1

DP
type: SiteQuality
SIO_000300: 1.625605e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 1.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.89e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 8.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e0

African
type: Population
allele count: 20
allele frequency: 2.544529262086514e-3
allele num: 7860
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
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South Asian
type: Population
allele count: 1
allele frequency: 1.06315118009781e-4
allele num: 9406
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Latino
type: Population
allele count: 2
allele frequency: 1.839926402943882e-4
allele num: 10870
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.928118393234672e-4
allele num: 7568
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

VQSLOD
type: SiteQuality
SIO_000300: -4.094e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

QD
type: SiteQuality
SIO_000300: 5.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

DP
type: SiteQuality
SIO_000300: 1.495227e6

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 2.2009e1

MQ
type: SiteQuality
SIO_000300: 5.693e1

African
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9106
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.724197386116763e-4
allele num: 57998
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
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MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.625e1

DP
type: SiteQuality
SIO_000300: 1.359885e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

East Asian
type: Population
allele count: 1
allele frequency: 1.348072256672958e-4
allele num: 7418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.739917179942235e-5
allele num: 57474
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

FS
type: SiteQuality
SIO_000300: 5.2523e1

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

VQSLOD
type: SiteQuality
SIO_000300: -1.66e1

QD
type: SiteQuality
SIO_000300: 2.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.162e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.098e0

DP
type: SiteQuality
SIO_000300: 1.333957e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57438
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 730
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.699055330634278e-4
allele num: 7410
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QD
type: SiteQuality
SIO_000300: 1.318e1

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 1.307424e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

FS
type: SiteQuality
SIO_000300: 3.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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South Asian
type: Population
allele count: 1
allele frequency: 1.188212927756654e-4
allele num: 8416
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.244e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -9.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

DP
type: SiteQuality
SIO_000300: 1.177544e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 674
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

DP
type: SiteQuality
SIO_000300: 1.091248e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 5.32e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7350
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.057359173764556e-5
allele num: 48606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

QD
type: SiteQuality
SIO_000300: 2.193e1

VQSLOD
type: SiteQuality
SIO_000300: -2.843e0

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.79e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.087356e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

South Asian
type: Population
allele count: 1
allele frequency: 6.445790898543251e-5
allele num: 15514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.104e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.673502e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.86e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.467e0

DP
type: SiteQuality
SIO_000300: 1.683272e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

African
type: Population
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South Asian
type: Population
allele count: 1
allele frequency: 6.401229035974907e-5
allele num: 15622
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.89e-2

DP
type: SiteQuality
SIO_000300: 1.685374e6

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

FS
type: SiteQuality
SIO_000300: 3.979e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.419309282321222e-5
allele num: 15578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

QD
type: SiteQuality
SIO_000300: 1.545e1

FS
type: SiteQuality
SIO_000300: 6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.395e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.559e0

DP
type: SiteQuality
SIO_000300: 1.68747e6

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.393044367727913e-5
allele num: 15642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65896
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.688088e6

VQSLOD
type: SiteQuality
SIO_000300: -1.553e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.359e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.379e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15706
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 1.694554e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.289e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.351e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 1.597e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.483e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

QD
type: SiteQuality
SIO_000300: 2.105e1

DP
type: SiteQuality
SIO_000300: 1.697151e6

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.056e1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 1.6996e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.712509712509713e-5
allele num: 10296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.714754e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 6.45e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.11e0

FS
type: SiteQuality
SIO_000300: 1.0241e1

DP
type: SiteQuality
SIO_000300: 1.716965e6

QD
type: SiteQuality
SIO_000300: 1.236e1

VQSLOD
type: SiteQuality
SIO_000300: -2.404e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.718579e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e0

FS
type: SiteQuality
SIO_000300: 3.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.221e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.767e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.044e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e0

DP
type: SiteQuality
SIO_000300: 1.720351e6

MQRankSum
type: SiteQuality
SIO_000300: -1.534e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.665e0

FS
type: SiteQuality
SIO_000300: 8.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.883e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.837e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 3.866e0

MQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.939e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 1.720371e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.021e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 7.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 1.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.717976e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.514e0

QD
type: SiteQuality
SIO_000300: 1.194e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020053152935492e-5
allele num: 66224
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

FS
type: SiteQuality
SIO_000300: 6.001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

DP
type: SiteQuality
SIO_000300: 1.716863e6

QD
type: SiteQuality
SIO_000300: 1.446e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

African
type: Population
allele count: 2
allele frequency: 1.947798987144527e-4
allele num: 10268
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.832620647525962e-4
allele num: 16370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 1.712394e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

African
type: Population
allele count: 1
allele frequency: 9.754194303550527e-5
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.571398285835429e-5
allele num: 66038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.708955e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.792e0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.291e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

FS
type: SiteQuality
SIO_000300: 6.796e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

DP
type: SiteQuality
SIO_000300: 1.705059e6

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65904
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
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MQRankSum
type: SiteQuality
SIO_000300: -5.44e-1

FS
type: SiteQuality
SIO_000300: 1.457e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.392e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

QD
type: SiteQuality
SIO_000300: 1.579e1

DP
type: SiteQuality
SIO_000300: 1.699309e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519756838905775e-5
allele num: 65800
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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East Asian
type: Population
allele count: 0
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allele num: 8582
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.032e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

DP
type: SiteQuality
SIO_000300: 1.694261e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.601e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.01e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
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Latino
type: Population
allele count: 2
allele frequency: 1.745200698080279e-4
allele num: 11460
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.57679868188198e-5
allele num: 65548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 1.682735e6

QD
type: SiteQuality
SIO_000300: 1.459e1

FS
type: SiteQuality
SIO_000300: 2.4151e1

VQSLOD
type: SiteQuality
SIO_000300: -2.864e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
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East Asian
type: Population
allele count: 3
allele frequency: 3.524436090225564e-4
allele num: 8512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520681265206813e-4
allele num: 6576
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65468
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South Asian
type: Population
allele count: 1
allele frequency: 6.13421666053245e-5
allele num: 16302
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.416e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 4.42e0

DP
type: SiteQuality
SIO_000300: 1.678098e6

QD
type: SiteQuality
SIO_000300: 1.319e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
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East Asian
type: Population
allele count: 1
allele frequency: 1.192748091603053e-4
allele num: 8384
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Latino
type: Population
allele count: 5
allele frequency: 4.427129449265097e-4
allele num: 11294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.639376e6

FS
type: SiteQuality
SIO_000300: 1.644e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.536e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.004419445560466e-4
allele num: 9956
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
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South Asian
type: Population
allele count: 2
allele frequency: 1.235788433020267e-4
allele num: 16184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64664
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.726e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 1.636839e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

Latino
type: Population
allele count: 3
allele frequency: 2.679528403001072e-4
allele num: 11196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
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South Asian
type: Population
allele count: 259
allele frequency: 1.611698817672682e-2
allele num: 16070
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Other
type: Population
allele count: 4
allele frequency: 4.576659038901602e-3
allele num: 874
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.677268475210477e-5
allele num: 64140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
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QD
type: SiteQuality
SIO_000300: 1.261e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 1.614112e6

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 1.468e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.204238921001927e-4
allele num: 8304
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.735e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.601432e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.204238921001927e-4
allele num: 8304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63958
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.735e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

DP
type: SiteQuality
SIO_000300: 1.601432e6

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.594998086002297e-5
allele num: 62696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
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South Asian
type: Population
allele count: 1
allele frequency: 6.32351081320349e-5
allele num: 15814
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.501e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.550201e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.548187e6

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 1.872e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.134e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.325910931174089e-5
allele num: 15808
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 1.548187e6

FS
type: SiteQuality
SIO_000300: 1.872e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

Latino
type: Population
allele count: 1
allele frequency: 9.316191540898081e-5
allele num: 10734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61906
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.964e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.852e0

QD
type: SiteQuality
SIO_000300: 1.312e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 1.512494e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.714563889075404e-5
allele num: 59572
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.970354685018528e-4
allele num: 7556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
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QD
type: SiteQuality
SIO_000300: 1.341e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 2.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.416027e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.715240237719505e-5
allele num: 59566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
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African
type: Population
allele count: 1
allele frequency: 1.078050884001725e-4
allele num: 9276
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 1.274e0

DP
type: SiteQuality
SIO_000300: 1.412023e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

QD
type: SiteQuality
SIO_000300: 1.242e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.68713726548792e-5
allele num: 59272
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 3.339e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.657e1

DP
type: SiteQuality
SIO_000300: 1.397718e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.438021282714984e-4
allele num: 6954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

DP
type: SiteQuality
SIO_000300: 1.269579e6

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55626
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.451800232288037e-4
allele num: 6888
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South Asian
type: Population
allele count: 8
allele frequency: 5.567928730512249e-4
allele num: 14368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.23e1

DP
type: SiteQuality
SIO_000300: 1.253874e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13494
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.117e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.106158e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.310536044362292e-5
allele num: 43280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

QD
type: SiteQuality
SIO_000300: 1.088e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.138e0

DP
type: SiteQuality
SIO_000300: 8.83797e5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43280
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.363884342607747e-4
allele num: 7332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.138e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 8.83797e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 4.201484524532001e-4
allele num: 42842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4410
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11636
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.433e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.7406e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 40444
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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: 590
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
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VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.12755e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 3.093102381688834e-4
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.035002035002035e-4
allele num: 4914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.514807257486351e-5
allele num: 36266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3806
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.463e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 9.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

DP
type: SiteQuality
SIO_000300: 7.4125e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.018329938900204e-3
allele num: 3928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3772
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.517e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 1.234e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 7.31703e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33924
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
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FS
type: SiteQuality
SIO_000300: 6.943e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

DP
type: SiteQuality
SIO_000300: 7.03622e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

VQSLOD
type: SiteQuality
SIO_000300: -3.325e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3334
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 6.81297e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.359086328518643e-5
allele num: 29770
num of homozygotes: 0

East Asian
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 8864
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.169e1

MQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 6.54648e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.594e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

African
type: Population
allele count: 1824
allele frequency: 3.420855213803451e-1
allele num: 5332
num of homozygotes: 283

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

Latino
type: Population
allele count: 126
allele frequency: 4.090909090909091e-2
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num of homozygotes: 2

Other
type: Population
allele count: 19
allele frequency: 4.502369668246445e-2
allele num: 422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 274
allele frequency: 9.673091859069406e-3
allele num: 28326
num of homozygotes: 7

East Asian
type: Population
allele count: 76
allele frequency: 2.651779483600837e-2
allele num: 2866
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.704e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.099e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.57e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 6.45006e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 2.150537634408602e-4
allele num: 4650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2766
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.608e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.992e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 6.26439e5

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27276
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 400
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East Asian
type: Population
allele count: 1
allele frequency: 3.690036900369004e-4
allele num: 2710
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2766
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

FS
type: SiteQuality
SIO_000300: 4.608e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.992e0

DP
type: SiteQuality
SIO_000300: 6.26439e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.061738424045491e-4
allele num: 2462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.83e0

DP
type: SiteQuality
SIO_000300: 6.12841e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.191e-1

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

South Asian
type: Population
allele count: 15
allele frequency: 9.088705768298595e-4
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.918226e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.008e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.318e1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: -1.943e0

DP
type: SiteQuality
SIO_000300: 1.917043e6

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.331e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.0549181072326e-5
allele num: 66062
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.374e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

DP
type: SiteQuality
SIO_000300: 1.917271e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 8.05e-1