http://identifiers.org/exac.variant/4-47886319-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886319
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886319
    reference: chr 4
allele count: 41488
allele frequency: 3.563832528733658e-1
allele num: 116414
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+44T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+44T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+44T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+44T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+44T>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 3928
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 322
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 404
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.25e1
  variant carriers: 931
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 7.5e0
  variant carriers: 552
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 455
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.25e1
  variant carriers: 2511
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.25e1
  variant carriers: 5353
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 620
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 1.25e1
  variant carriers: 2003
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 1.75e1
  variant carriers: 3829
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.75e1
  variant carriers: 1495
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 2.75e1
  variant carriers: 5974
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 3.25e1
  variant carriers: 5391
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.25e1
  variant carriers: 437
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 4.75e1
  variant carriers: 314
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.75e1
  variant carriers: 590
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 207
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.75e1
  variant carriers: 302
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 8.25e1
  variant carriers: 585
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 166
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.25e1
  variant carriers: 481
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 9.25e1
  variant carriers: 569
num of homozygotes: 7639
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

4-47886319-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886319
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886319
    reference: chr 4
allele count: 1
allele frequency: 8.590032126720154e-6
allele num: 116414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+44T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+44T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+44T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+44T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+44T>A
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-47886321-AGTTTTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886321
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886314
    reference: chr 4
allele count: 1
allele frequency: 8.505860537910621e-6
allele num: 117566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+35_1916+41delAAAAAAC
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+35_1985+41delAAAAAAC
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+35_1916+41delAAAAAAC
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+35_1916+41delAAAAAAC
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+35_1916+41delAAAAAAC
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: AGTTTTTT
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

4-47886322-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886322
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886323
    reference: chr 4
allele count: 53
allele frequency: 4.57290767903365e-4
allele num: 115900
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+40dupA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+40dupA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+40dupA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+40dupA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+40dupA
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11286
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

4-47886322-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886322
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886324
    reference: chr 4
allele count: 9
allele frequency: 7.765314926660915e-5
allele num: 115900
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+39_1916+40dupAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+39_1916+40dupAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+39_1985+40dupAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+39_1916+40dupAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+39_1916+40dupAA
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11215
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

4-47886322-G-GTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886322
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886325
    reference: chr 4
allele count: 2
allele frequency: 1.725625539257981e-5
allele num: 115900
alternate allele: GTTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+38_1985+40dupAAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+38_1916+40dupAAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+38_1916+40dupAAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+38_1916+40dupAAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+38_1916+40dupAAA
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11215
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-47886324-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886324
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886324
    reference: chr 4
allele count: 3
allele frequency: 2.589644873366366e-5
allele num: 115846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+39A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+39A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+39A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+39A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+39A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

4-47886327-TTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886327
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886325
    reference: chr 4
allele count: 4
allele frequency: 3.448216410061896e-5
allele num: 116002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+34_1916+35delCA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+34_1985+35delCA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+34_1916+35delCA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+34_1916+35delCA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+34_1916+35delCA
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14370
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11166
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: TTG
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-47886328-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886328
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886327
    reference: chr 4
allele count: 45
allele frequency: 3.90509745387646e-4
allele num: 115234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+34delC
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+34delC
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+34delC
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+34delC
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+34delC
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14410
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11189
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 14879
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: TG
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-47886329-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886329
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886330
    reference: chr 4
allele count: 4774
allele frequency: 7.761591988034076e-2
allele num: 61508
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+33dupA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+33dupA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+33dupA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+33dupA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+33dupA
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 1.75e1
  variant carriers: 581
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 4.75e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.25e1
  variant carriers: 1300
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.75e1
  variant carriers: 1539
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 4.25e1
  variant carriers: 714
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 1529
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 9.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 957
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 5.75e1
  variant carriers: 230
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.25e1
  variant carriers: 171
genotype quality: GenotypeQuality
  all individuals: 17490
  bin: 2.5e0
  variant carriers: 689
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 1.75e1
  variant carriers: 761
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 702
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 5.25e1
  variant carriers: 260
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 523
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 2.75e1
  variant carriers: 543
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 323
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 2.25e1
  variant carriers: 683
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.5e0
  variant carriers: 747
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 173
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

4-47886329-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886329
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886328
    reference: chr 4
allele count: 7784
allele frequency: 1.265526435585615e-1
allele num: 61508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+33delA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+33delA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+33delA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+33delA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+33delA
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 9.75e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 1729
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.25e1
  variant carriers: 1665
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.75e1
  variant carriers: 2428
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 2052
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 4.75e1
  variant carriers: 615
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 1.75e1
  variant carriers: 641
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 4.25e1
  variant carriers: 1102
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 874
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 291
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.5e0
  variant carriers: 1120
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 5.75e1
  variant carriers: 399
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 9.75e1
  variant carriers: 1083
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 2.75e1
  variant carriers: 852
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 6.25e1
  variant carriers: 344
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 507
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 1.75e1
  variant carriers: 890
genotype quality: GenotypeQuality
  all individuals: 17490
  bin: 2.5e0
  variant carriers: 971
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 2.25e1
  variant carriers: 894
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 4.25e1
  variant carriers: 597
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 779
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: GT
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

4-47886329-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886329
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886331
    reference: chr 4
allele count: 29
allele frequency: 4.714833842752162e-4
allele num: 61508
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+32_1916+33dupAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+32_1985+33dupAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+32_1916+33dupAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+32_1916+33dupAA
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+32_1916+33dupAA
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17490
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

4-47886329-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886329
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886329
    reference: chr 4
allele count: 844
allele frequency: 1.372179228718215e-2
allele num: 61508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+34C>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+34C>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+34C>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+34C>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+34C>A
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 1.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 4.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 4.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.75e1
  variant carriers: 197
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 17490
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 9.75e1
  variant carriers: 683
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 4.25e1
  variant carriers: 6
num of homozygotes: 3
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

4-47886335-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886335
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886335
    reference: chr 4
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+28A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+28A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+28A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+28A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+28A>C
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32272
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

4-47886341-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886341
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886340
    reference: chr 4
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+21delT
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+21delT
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+21delT
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+21delT
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+21delT
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: TA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

4-47886341-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886341
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886339
    reference: chr 4
allele count: 3
allele frequency: 2.507522567703109e-5
allele num: 119640
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+20_1916+21delTT
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+20_1985+21delTT
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+20_1916+21delTT
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+20_1916+21delTT
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+20_1916+21delTT
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11360
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8476
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: TAA
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

4-47886342-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886342
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886342
    reference: chr 4
allele count: 2
allele frequency: 1.674873547047198e-5
allele num: 119412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+21T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+21T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+21T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+21T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+21T>A
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11422
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
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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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  bin: 2.75e1
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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
  all individuals: 3750
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

4-47886343-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886343
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886343
    reference: chr 4
allele count: 3
allele frequency: 2.502335513145603e-5
allele num: 119888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+20T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+20T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+20T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+20T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+20T>A
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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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  variant carriers: 1
genotype depth: GenotypeDepth
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  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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
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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: 3.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

4-47886344-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886344
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886344
    reference: chr 4
allele count: 2
allele frequency: 1.665861500274867e-5
allele num: 120058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+19A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+19A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+19A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+19A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+19A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

4-47886351-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886351
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886351
    reference: chr 4
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+12A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+12A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+12A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+12A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+12A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

4-47886355-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886355
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886355
    reference: chr 4
allele count: 2
allele frequency: 1.656726308813784e-5
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+8T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+8T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+8T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+8T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+8T>C
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1916+8T>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

4-47886356-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886356
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886356
    reference: chr 4
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+7A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+7A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+7A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+7A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+7A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11429
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1916+7A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

4-47886360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886360
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886360
    reference: chr 4
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1916+3A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1916+3A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1916+3A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1985+3A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1916+3A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.75e1
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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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8784
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1916+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

4-47886382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886382
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886382
    reference: chr 4
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1966T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1897T>C
  hgvsp: ENSP00000370949.3:p.Cys633Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1897T>C
  hgvsp: ENSP00000425812.1:p.Cys633Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1897T>C
  hgvsp: ENSP00000422037.1:p.Cys633Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1897T>C
  hgvsp: ENSP00000333113.3:p.Cys633Arg
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  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
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys633Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

4-47886391-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886391
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886391
    reference: chr 4
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1888T>A
  hgvsp: ENSP00000422037.1:p.Cys630Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1888T>A
  hgvsp: ENSP00000370949.3:p.Cys630Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1888T>A
  hgvsp: ENSP00000333113.3:p.Cys630Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1888T>A
  hgvsp: ENSP00000425812.1:p.Cys630Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1957T>A
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys630Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/4-47886400-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886400
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886400
    reference: chr 4
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1948G>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1879G>T
  hgvsp: ENSP00000370949.3:p.Ala627Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1879G>T
  hgvsp: ENSP00000425812.1:p.Ala627Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1879G>T
  hgvsp: ENSP00000422037.1:p.Ala627Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1879G>T
  hgvsp: ENSP00000333113.3:p.Ala627Ser
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala627Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

4-47886400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886400
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886400
    reference: chr 4
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1879G>A
  hgvsp: ENSP00000333113.3:p.Ala627Thr
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1879G>A
  hgvsp: ENSP00000422037.1:p.Ala627Thr
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1948G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1879G>A
  hgvsp: ENSP00000425812.1:p.Ala627Thr
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1879G>A
  hgvsp: ENSP00000370949.3:p.Ala627Thr
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala627Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

4-47886406-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886406
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886406
    reference: chr 4
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1942C>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1873C>A
  hgvsp: ENSP00000425812.1:p.Gln625Lys
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1873C>A
  hgvsp: ENSP00000422037.1:p.Gln625Lys
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1873C>A
  hgvsp: ENSP00000370949.3:p.Gln625Lys
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1873C>A
  hgvsp: ENSP00000333113.3:p.Gln625Lys
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln625Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-47886407-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886407
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886407
    reference: chr 4
allele count: 5
allele frequency: 4.121535849118816e-5
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1872T>G
  hgvsp: ENSP00000370949.3:p.Ile624Met
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1872T>G
  hgvsp: ENSP00000425812.1:p.Ile624Met
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1941T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1872T>G
  hgvsp: ENSP00000333113.3:p.Ile624Met
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1872T>G
  hgvsp: ENSP00000422037.1:p.Ile624Met
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile624Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

4-47886418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886418
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886418
    reference: chr 4
allele count: 3
allele frequency: 2.473370049137618e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1861C>T
  hgvsp: ENSP00000370949.3:p.Pro621Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1861C>T
  hgvsp: ENSP00000333113.3:p.Pro621Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1930C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1861C>T
  hgvsp: ENSP00000425812.1:p.Pro621Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1861C>T
  hgvsp: ENSP00000422037.1:p.Pro621Ser
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro621Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/4-47886422-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886422
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886422
    reference: chr 4
allele count: 3
allele frequency: 2.473370049137618e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1857T>G
  hgvsp: ENST00000507489.1:c.1857T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1857T>G
  hgvsp: ENST00000329043.3:c.1857T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1857T>G
  hgvsp: ENST00000381538.3:c.1857T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1857T>G
  hgvsp: ENST00000464756.2:c.1857T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1926T>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser619Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

4-47886429-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886429
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886429
    reference: chr 4
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1919A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1850A>G
  hgvsp: ENSP00000422037.1:p.Gln617Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1850A>G
  hgvsp: ENSP00000425812.1:p.Gln617Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1850A>G
  hgvsp: ENSP00000370949.3:p.Gln617Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1850A>G
  hgvsp: ENSP00000333113.3:p.Gln617Arg
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln617Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

4-47886445-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886445
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886445
    reference: chr 4
allele count: 5
allele frequency: 4.130115147610316e-5
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1903A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1834A>G
  hgvsp: ENSP00000425812.1:p.Thr612Ala
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1834A>G
  hgvsp: ENSP00000422037.1:p.Thr612Ala
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1834A>G
  hgvsp: ENSP00000370949.3:p.Thr612Ala
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1834A>G
  hgvsp: ENSP00000333113.3:p.Thr612Ala
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr612Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

4-47886447-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886447
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886447
    reference: chr 4
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1832C>G
  hgvsp: ENSP00000422037.1:p.Pro611Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1901C>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1832C>G
  hgvsp: ENSP00000425812.1:p.Pro611Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1832C>G
  hgvsp: ENSP00000333113.3:p.Pro611Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1832C>G
  hgvsp: ENSP00000370949.3:p.Pro611Arg
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro611Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-47886449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886449
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886449
    reference: chr 4
allele count: 3
allele frequency: 2.480527856327827e-5
allele num: 120942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1899G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1830G>A
  hgvsp: ENST00000464756.2:c.1830G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1830G>A
  hgvsp: ENST00000329043.3:c.1830G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1830G>A
  hgvsp: ENST00000507489.1:c.1830G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1830G>A
  hgvsp: ENST00000381538.3:c.1830G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln610Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

4-47886452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886452
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886452
    reference: chr 4
allele count: 3
allele frequency: 2.482950407203867e-5
allele num: 120824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1827C>T
  hgvsp: ENST00000329043.3:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1827C>T
  hgvsp: ENST00000381538.3:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1827C>T
  hgvsp: ENST00000464756.2:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1896C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1827C>T
  hgvsp: ENST00000507489.1:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38626
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1827C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

4-47886452-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886452
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886452
    reference: chr 4
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1827C>G
  hgvsp: ENSP00000370949.3:p.His609Gln
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1827C>G
  hgvsp: ENSP00000422037.1:p.His609Gln
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1896C>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1827C>G
  hgvsp: ENSP00000425812.1:p.His609Gln
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1827C>G
  hgvsp: ENSP00000333113.3:p.His609Gln
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His609Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

4-47886462-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886462
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886462
    reference: chr 4
allele count: 1
allele frequency: 8.336390009670212e-6
allele num: 119956
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-8A>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-8A>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-8A>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-8A>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-8A>T
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 132
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8385
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genotype quality: GenotypeQuality
  all individuals: 2574
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1825-8A>T
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

4-47886467-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886467
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886467
    reference: chr 4
allele count: 1
allele frequency: 8.358827757995218e-6
allele num: 119634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-13A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-13A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-13A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-13A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-13A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
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genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
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genotype quality: GenotypeQuality
  all individuals: 57
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genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 704
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3639
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genotype quality: GenotypeQuality
  all individuals: 1556
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 332
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 188
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genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

4-47886470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886470
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886470
    reference: chr 4
allele count: 3
allele frequency: 2.510712372790573e-5
allele num: 119488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-16T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-16T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-16T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-16T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-16T>C
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS

4-47886471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886471
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886471
    reference: chr 4
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-17A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-17A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-17A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-17A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-17A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 7416
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 783
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/4-47886472-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886472
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886472
    reference: chr 4
allele count: 1
allele frequency: 8.387713677005921e-6
allele num: 119222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-18T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-18T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-18T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-18T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-18T>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32359
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

4-47886474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886474
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886474
    reference: chr 4
allele count: 1
allele frequency: 8.393768466290626e-6
allele num: 119136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-20C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-20C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-20C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-20C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-20C>T
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4410
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
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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: 1113
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

4-47886487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886487
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886487
    reference: chr 4
allele count: 1
allele frequency: 8.451513666097598e-6
allele num: 118322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-33C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-33C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-33C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-33C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-33C>T
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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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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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 7335
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 25507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

4-47886490-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886490
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886490
    reference: chr 4
allele count: 2
allele frequency: 1.69505890329689e-5
allele num: 117990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-36C>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-36C>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-36C>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-36C>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-36C>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17863
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
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genotype depth: GenotypeDepth
  all individuals: 160
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
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genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
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genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 78
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  variant carriers: 0
genotype quality: GenotypeQuality
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  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
  all individuals: 23406
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genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

4-47886501-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886501
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886501
    reference: chr 4
allele count: 4
allele frequency: 3.436248990601859e-5
allele num: 116406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-47A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-47A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-47A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-47A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-47A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13112
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
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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: 391
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3295
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

4-47886501-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886501
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886501
    reference: chr 4
allele count: 1
allele frequency: 8.590622476504648e-6
allele num: 116406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-47A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-47A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-47A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-47A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-47A>C
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4551
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genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

4-47886503-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47886503
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47886503
    reference: chr 4
allele count: 2
allele frequency: 1.722029928880164e-5
allele num: 116142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1825-49A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1825-49A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1825-49A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1825-49A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1894-49A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13653
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

4-47887467-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887467
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887467
    reference: chr 4
allele count: 157
allele frequency: 1.323130340979959e-3
allele num: 118658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+48A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+48A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+48A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+48A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+48A>C
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48749
  bin: 9.75e1
  variant carriers: 156
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-47887469-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887469
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887469
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 118658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+46G>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+46G>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+46G>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+46G>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+46G>T
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

4-47887470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887470
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887470
    reference: chr 4
allele count: 2
allele frequency: 1.682793437105595e-5
allele num: 118850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+45T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+45T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+45T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+45T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+45T>C
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48736
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/4-47887473-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887473
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887473
    reference: chr 4
allele count: 1
allele frequency: 8.420768984623676e-6
allele num: 118754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+42G>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+42G>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+42G>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+42G>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+42G>T
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  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: 7.5e0
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

4-47887482-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887482
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887482
    reference: chr 4
allele count: 1
allele frequency: 8.389965601141035e-6
allele num: 119190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+33A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+33A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+33A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+33A>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+33A>C
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
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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
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1019
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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: 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
  all individuals: 2698
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 573
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genotype quality: GenotypeQuality
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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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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: 3461
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genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-47887486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887486
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887486
    reference: chr 4
allele count: 1
allele frequency: 8.377594960038872e-6
allele num: 119366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+29G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+29G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+29G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+29G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+29G>A
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 845
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

4-47887495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887495
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887495
    reference: chr 4
allele count: 1
allele frequency: 8.345016356232058e-6
allele num: 119832
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+20A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+20A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+20A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+20A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+20A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-47887497-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887497
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887497
    reference: chr 4
allele count: 1
allele frequency: 8.335695113615524e-6
allele num: 119966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+18T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+18T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+18T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+18T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+18T>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 9.75e1
  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48759
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum

4-47887497-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887497
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887497
    reference: chr 4
allele count: 3
allele frequency: 2.500708534084657e-5
allele num: 119966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+18T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+18T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+18T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+18T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+18T>C
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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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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genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1653
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
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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
  all individuals: 13
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genotype quality: GenotypeQuality
  all individuals: 918
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genotype quality: GenotypeQuality
  all individuals: 71
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genotype quality: GenotypeQuality
  all individuals: 893
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1289
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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: 78
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genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

4-47887501-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887501
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887501
    reference: chr 4
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+14A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+14A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+14A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+14A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+14A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 48759
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

4-47887506-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887506
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887506
    reference: chr 4
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+9A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+9A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+9A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+9A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+9A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

4-47887507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887507
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887507
    reference: chr 4
allele count: 2
allele frequency: 1.658622348277521e-5
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+8A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+8A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+8A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+8A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+8A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48756
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.25e1
  variant carriers: 1
hgvs: c.1824+8A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

4-47887508-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887508
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887508
    reference: chr 4
allele count: 2
allele frequency: 1.657742486282181e-5
allele num: 120646
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+7G>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+7G>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+7G>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+7G>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+7G>C
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1824+7G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

4-47887508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887508
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887508
    reference: chr 4
allele count: 2
allele frequency: 1.657742486282181e-5
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+7G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+7G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+7G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+7G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+7G>A
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48761
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1824+7G>A
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-47887512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887512
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887512
    reference: chr 4
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+3A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+3A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+3A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+3A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+3A>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48755
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1824+3A>G
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/4-47887513-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887513
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887513
    reference: chr 4
allele count: 1561
allele frequency: 1.32921200974131e-2
allele num: 117438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1824+2T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1824+2T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1893+2T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1824+2T>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1824+2T>G
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 6.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 9.75e1
  variant carriers: 1757
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 9.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 8.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 6.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 7.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.25e1
  variant carriers: 156
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 8.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.5e0
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 9.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 40870
  bin: 9.75e1
  variant carriers: 565
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.5e0
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 5828
  bin: 6.25e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.75e1
  variant carriers: 92
hgvs: c.1824+2T>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

4-47887536-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887536
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887536
    reference: chr 4
allele count: 90302
allele frequency: 7.441082435149478e-1
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1872A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1803A>G
  hgvsp: ENST00000464756.2:c.1803A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1803A>G
  hgvsp: ENST00000329043.3:c.1803A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1803A>G
  hgvsp: ENST00000507489.1:c.1803A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1803A>G
  hgvsp: ENST00000381538.3:c.1803A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 8.75e1
  variant carriers: 1332
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 469
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 721
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.75e1
  variant carriers: 925
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 847
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 923
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 8.25e1
  variant carriers: 1075
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.75e1
  variant carriers: 669
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 1464
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 852
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 698
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.25e1
  variant carriers: 794
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 899
genotype depth: GenotypeDepth
  all individuals: 44517
  bin: 9.75e1
  variant carriers: 44391
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 6.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 4
hgvs: p.Ala601Ala
num of homozygotes: 33866
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

4-47887537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887537
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887537
    reference: chr 4
allele count: 5
allele frequency: 4.119226903494752e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1802C>T
  hgvsp: ENSP00000370949.3:p.Ala601Val
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1802C>T
  hgvsp: ENSP00000425812.1:p.Ala601Val
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1871C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1802C>T
  hgvsp: ENSP00000422037.1:p.Ala601Val
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1802C>T
  hgvsp: ENSP00000333113.3:p.Ala601Val
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala601Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-47887551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887551
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887551
    reference: chr 4
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1857G>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1788G>A
  hgvsp: ENST00000329043.3:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1788G>A
  hgvsp: ENST00000381538.3:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1788G>A
  hgvsp: ENST00000507489.1:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1788G>A
  hgvsp: ENST00000464756.2:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12208
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro596Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

4-47887552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887552
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887552
    reference: chr 4
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1787C>T
  hgvsp: ENSP00000370949.3:p.Pro596Leu
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1787C>T
  hgvsp: ENSP00000422037.1:p.Pro596Leu
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1856C>T
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1787C>T
  hgvsp: ENSP00000425812.1:p.Pro596Leu
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1787C>T
  hgvsp: ENSP00000333113.3:p.Pro596Leu
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro596Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

4-47887566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887566
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887566
    reference: chr 4
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1773C>T
  hgvsp: ENST00000381538.3:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1773C>T
  hgvsp: ENST00000464756.2:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1773C>T
  hgvsp: ENST00000329043.3:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1773C>T
  hgvsp: ENST00000507489.1:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1842C>T
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His591His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

4-47887569-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887569
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887569
    reference: chr 4
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1770T>C
  hgvsp: ENST00000464756.2:c.1770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1839T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1770T>C
  hgvsp: ENST00000381538.3:c.1770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1770T>C
  hgvsp: ENST00000329043.3:c.1770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1770T>C
  hgvsp: ENST00000507489.1:c.1770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12199
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly590Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

4-47887575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887575
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887575
    reference: chr 4
allele count: 51
allele frequency: 4.201542213141765e-4
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1764A>G
  hgvsp: ENST00000329043.3:c.1764A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1764A>G
  hgvsp: ENST00000381538.3:c.1764A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1833A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1764A>G
  hgvsp: ENST00000464756.2:c.1764A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1764A>G
  hgvsp: ENST00000507489.1:c.1764A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8556
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys588Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

4-47887583-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887583
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887583
    reference: chr 4
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1825T>C
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1756T>C
  hgvsp: ENST00000464756.2:c.1756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1756T>C
  hgvsp: ENST00000329043.3:c.1756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1756T>C
  hgvsp: ENST00000381538.3:c.1756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1756T>C
  hgvsp: ENST00000507489.1:c.1756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12157
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu586Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-47887600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887600
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887600
    reference: chr 4
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1739A>G
  hgvsp: ENSP00000370949.3:p.Gln580Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1739A>G
  hgvsp: ENSP00000333113.3:p.Gln580Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1739A>G
  hgvsp: ENSP00000425812.1:p.Gln580Arg
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1808A>G
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1739A>G
  hgvsp: ENSP00000422037.1:p.Gln580Arg
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln580Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

4-47887616-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47887616
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47887616
    reference: chr 4
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000333113
  ensembl transcript: ENST00000329043
  gene symbol: NFXL1
  hgvsc: ENST00000329043.3:c.1723T>A
  hgvsp: ENSP00000333113.3:p.Cys575Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000425812
  ensembl transcript: ENST00000464756
  gene symbol: NFXL1
  hgvsc: ENST00000464756.2:c.1723T>A
  hgvsp: ENSP00000425812.1:p.Cys575Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170448
  ensembl transcript: ENST00000507131
  gene symbol: NFXL1
  hgvsc: ENST00000507131.1:n.1792T>A
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000370949
  ensembl transcript: ENST00000381538
  gene symbol: NFXL1
  hgvsc: ENST00000381538.3:c.1723T>A
  hgvsp: ENSP00000370949.3:p.Cys575Ser
  variant of: http://identifiers.org/hgnc/18726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170448
  ensembl protein: ENSP00000422037
  ensembl transcript: ENST00000507489
  gene symbol: NFXL1
  hgvsc: ENST00000507489.1:c.1723T>A
  hgvsp: ENSP00000422037.1:p.Cys575Ser
  variant of: http://identifiers.org/hgnc/18726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12151
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys575Ser
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 290
bin: 1.75e1
variant carriers: 93

GenotypeQuality
all individuals: 916
bin: 8.75e1
variant carriers: 341

GenotypeQuality
all individuals: 2933
bin: 6.75e1
variant carriers: 518

GenotypeQuality
all individuals: 32149
bin: 9.75e1
variant carriers: 29064

GenotypeQuality
all individuals: 1670
bin: 2.25e1
variant carriers: 138

European (Non-Finnish)
type: Population
allele count: 20852
allele frequency: 3.27038895859473e-1
allele num: 63760
num of homozygotes: 3391

African
type: Population
allele count: 3323
allele frequency: 3.434980359727103e-1
allele num: 9674
num of homozygotes: 584

European (Finnish)
type: Population
allele count: 2827
allele frequency: 4.37345297029703e-1
allele num: 6464
num of homozygotes: 620

Other
type: Population
allele count: 321
allele frequency: 3.631221719457013e-1
allele num: 884
num of homozygotes: 56

Latino
type: Population
allele count: 3706
allele frequency: 3.295980078263963e-1
allele num: 11244
num of homozygotes: 613

East Asian
type: Population
allele count: 4670
allele frequency: 5.661978661493695e-1
allele num: 8248
num of homozygotes: 1319

South Asian
type: Population
allele count: 5789
allele frequency: 3.586741016109046e-1
allele num: 16140
num of homozygotes: 1056

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.21e-2

DP
type: SiteQuality
SIO_000300: 1.812482e6

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.993e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 2.134e1

GenotypeQuality
all individuals: 6645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63760
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.212415130940834e-4
allele num: 8248
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: 6464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

MQ
type: SiteQuality
SIO_000300: 5.993e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.21e-2

QD
type: SiteQuality
SIO_000300: 2.134e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 1.812482e6

GenotypeQuality
all individuals: 334
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 1947
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12194
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.196458482890644e-4
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

FS
type: SiteQuality
SIO_000300: 3.047e0

DP
type: SiteQuality
SIO_000300: 1.850363e6

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

QD
type: SiteQuality
SIO_000300: 6.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.016e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

GenotypeQuality
all individuals: 1714
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11215
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 2662
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3410
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2500
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 10
allele frequency: 8.890469416785206e-4
allele num: 11248
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.063983488132095e-4
allele num: 9690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.859065716547902e-4
allele num: 63150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.269592476489029e-4
allele num: 6380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.423e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 5.42e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.834489e6

GenotypeQuality
all individuals: 2805
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 327
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11286
bin: 6.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.567398119122257e-4
allele num: 6380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.266825019794141e-4
allele num: 63150
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

QD
type: SiteQuality
SIO_000300: 5.42e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

FS
type: SiteQuality
SIO_000300: 1.423e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.834489e6

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 895
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583531274742676e-5
allele num: 63150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.890469416785207e-5
allele num: 11248
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 1.423e0

DP
type: SiteQuality
SIO_000300: 1.834489e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 5.42e0

GenotypeQuality
all individuals: 1367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11121
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.57653791130186e-4
allele num: 8388
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.843e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: -1.178e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

FS
type: SiteQuality
SIO_000300: 7.749e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
SIO_000300: 1.840588e6

VQSLOD
type: SiteQuality
SIO_000300: -1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeQuality
all individuals: 1141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.746234653841286e-5
allele num: 63208
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16370808678501e-5
allele num: 16224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

DP
type: SiteQuality
SIO_000300: 1.863912e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

FS
type: SiteQuality
SIO_000300: 2.644e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

QD
type: SiteQuality
SIO_000300: 8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.075e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

GenotypeQuality
all individuals: 4117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 249
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1721
bin: 8.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.717189683648838e-4
allele num: 62968
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041232819658476e-4
allele num: 9604
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.579738679076428e-4
allele num: 11174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.253908692933083e-4
allele num: 6396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.537e-1

QD
type: SiteQuality
SIO_000300: 2.77e0

FS
type: SiteQuality
SIO_000300: 3.947e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.887302e6

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 79

GenotypeQuality
all individuals: 2659
bin: 6.25e1
variant carriers: 199

GenotypeQuality
all individuals: 2701
bin: 3.75e1
variant carriers: 430

GenotypeQuality
all individuals: 2318
bin: 4.25e1
variant carriers: 421

GenotypeQuality
all individuals: 3170
bin: 9.75e1
variant carriers: 411

European (Finnish)
type: Population
allele count: 51
allele frequency: 1.297709923664122e-2
allele num: 3930
num of homozygotes: 0

African
type: Population
allele count: 333
allele frequency: 6.278280542986425e-2
allele num: 5304
num of homozygotes: 0

Other
type: Population
allele count: 38
allele frequency: 7.6e-2
allele num: 500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2139
allele frequency: 6.291546561562444e-2
allele num: 33998
num of homozygotes: 0

South Asian
type: Population
allele count: 1461
allele frequency: 1.842370744010088e-1
allele num: 7930
num of homozygotes: 0

East Asian
type: Population
allele count: 258
allele frequency: 6.392467789890981e-2
allele num: 4036
num of homozygotes: 0

Latino
type: Population
allele count: 494
allele frequency: 8.502581755593804e-2
allele num: 5810
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 1.354e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.512e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 2.18586e6

QD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 940
bin: 7.25e1
variant carriers: 231

GenotypeQuality
all individuals: 2701
bin: 3.75e1
variant carriers: 654

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 169

GenotypeQuality
all individuals: 788
bin: 7.75e1
variant carriers: 197

GenotypeQuality
all individuals: 1711
bin: 5.25e1
variant carriers: 483

European (Non-Finnish)
type: Population
allele count: 4245
allele frequency: 1.248602858991705e-1
allele num: 33998
num of homozygotes: 0

Latino
type: Population
allele count: 695
allele frequency: 1.196213425129088e-1
allele num: 5810
num of homozygotes: 0

South Asian
type: Population
allele count: 1489
allele frequency: 1.877679697351828e-1
allele num: 7930
num of homozygotes: 0

East Asian
type: Population
allele count: 557
allele frequency: 1.3800792864222e-1
allele num: 4036
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 187
allele frequency: 4.758269720101781e-2
allele num: 3930
num of homozygotes: 0

African
type: Population
allele count: 555
allele frequency: 1.046380090497738e-1
allele num: 5304
num of homozygotes: 0

Other
type: Population
allele count: 56
allele frequency: 1.12e-1
allele num: 500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.512e-1

FS
type: SiteQuality
SIO_000300: 1.354e0

QD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

DP
type: SiteQuality
SIO_000300: 2.18586e6

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.513240857503153e-3
allele num: 7930
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.163511187607573e-4
allele num: 5810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 3.529619389375846e-4
allele num: 33998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4036
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.770739064856712e-4
allele num: 5304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

QD
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

FS
type: SiteQuality
SIO_000300: 1.354e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.512e-1

DP
type: SiteQuality
SIO_000300: 2.18586e6

GenotypeQuality
all individuals: 3875
bin: 1.25e1
variant carriers: 13

GenotypeQuality
all individuals: 1268
bin: 6.75e1
variant carriers: 14

GenotypeQuality
all individuals: 940
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3687
bin: 1.75e1
variant carriers: 10

GenotypeQuality
all individuals: 788
bin: 7.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 662
allele frequency: 1.947173363139008e-2
allele num: 33998
num of homozygotes: 2

African
type: Population
allele count: 15
allele frequency: 2.828054298642534e-3
allele num: 5304
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 2.01765447667087e-3
allele num: 7930
num of homozygotes: 0

Latino
type: Population
allele count: 79
allele frequency: 1.359724612736661e-2
allele num: 5810
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 65
allele frequency: 1.653944020356234e-2
allele num: 3930
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 1.4e-2
allele num: 500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.512e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 1.354e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 2.18586e6

QD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

GenotypeQuality
all individuals: 378
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 1.078e1

MQ
type: SiteQuality
SIO_000300: 5.783e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.796986e6

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.784e0

GenotypeQuality
all individuals: 2792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519110408944522e-5
allele num: 65828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.509e0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 1.2671e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.813526e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 684
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1627
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.557331226833567e-5
allele num: 65828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
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: 16450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 1.2671e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.509e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.813526e6

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044881554107545e-5
allele num: 65684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

VQSLOD
type: SiteQuality
SIO_000300: -2.702e0

DP
type: SiteQuality
SIO_000300: 1.822343e6

FS
type: SiteQuality
SIO_000300: 6.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 3.21e0

GenotypeQuality
all individuals: 2742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
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: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.545592290675475e-5
allele num: 65998
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.855e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 1.388e0

DP
type: SiteQuality
SIO_000300: 1.822287e6

VQSLOD
type: SiteQuality
SIO_000300: -2.795e0

GenotypeQuality
all individuals: 829
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512721991952319e-5
allele num: 66106
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.37e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.820598e6

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8729
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.833966e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.594e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

MQRankSum
type: SiteQuality
SIO_000300: -1.279e0

VQSLOD
type: SiteQuality
SIO_000300: -1.114e0

FS
type: SiteQuality
SIO_000300: 2.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
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variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.316423442205235e-4
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

DP
type: SiteQuality
SIO_000300: 1.837505e6

VQSLOD
type: SiteQuality
SIO_000300: -4.903e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.682e1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 3.985e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 826
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.152e0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

MQ
type: SiteQuality
SIO_000300: 5.809e1

FS
type: SiteQuality
SIO_000300: 5.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: -2.503e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.837886e6

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39190
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
SIO_000300: 1.591e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.963e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

DP
type: SiteQuality
SIO_000300: 1.840115e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
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variant carriers: 0

GenotypeQuality
all individuals: 39558
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.844951e6

QD
type: SiteQuality
SIO_000300: 1.448e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.025e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.564e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39590
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GenotypeQuality
all individuals: 826
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.75e1
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GenotypeQuality
all individuals: 719
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
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: 8646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.84535e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

VQSLOD
type: SiteQuality
SIO_000300: -1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

FS
type: SiteQuality
SIO_000300: 4.957e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

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

GenotypeQuality
all individuals: 1585
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GenotypeQuality
all individuals: 2771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
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variant carriers: 0

GenotypeQuality
all individuals: 8812
bin: 6.75e1
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GenotypeQuality
all individuals: 2645
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 11546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

FS
type: SiteQuality
SIO_000300: 1.073e0

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 1.845716e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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South Asian
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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: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.845716e6

QD
type: SiteQuality
SIO_000300: 1.07e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 1.073e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.885e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.845578e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.61e0

FS
type: SiteQuality
SIO_000300: 4.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.399e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

InbreedingCoeff
type: SiteQuality
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
SIO_000300: 1.25e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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: 8644
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498155756139982e-5
allele num: 66694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.266e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.878e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.845459e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 11544
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.916e0

DP
type: SiteQuality
SIO_000300: 1.845335e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 1.217e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

FS
type: SiteQuality
SIO_000300: 2.143e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.631e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.844619e6

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.898550724637681e-4
allele num: 10350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.841093e6

FS
type: SiteQuality
SIO_000300: 2.418e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10342
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Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.227e1

FS
type: SiteQuality
SIO_000300: 3.738e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
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African
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allele count: 3
allele frequency: 2.903600464576074e-4
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
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South Asian
type: Population
allele count: 0
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allele num: 16484
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.837943e6

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.515216278859757e-5
allele num: 66442
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
type: Population
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allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

Latino
type: Population
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allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

European (Finnish)
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allele num: 6592
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65926
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: 16398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.5220700152207e-4
allele num: 6570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.804976e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

VQSLOD
type: SiteQuality
SIO_000300: -2.348e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 1.412e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.676e1

GenotypeQuality
all individuals: 682
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8095
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variant carriers: 0

GenotypeQuality
all individuals: 35129
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65712
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.292e1

QD
type: SiteQuality
SIO_000300: 1.756e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.206e0

DP
type: SiteQuality
SIO_000300: 1.785332e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 2501
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524157902758726e-5
allele num: 65610
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

QD
type: SiteQuality
SIO_000300: 1.557e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.772521e6

FS
type: SiteQuality
SIO_000300: 3.784e0

GenotypeQuality
all individuals: 32086
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 807
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variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528677999266235e-5
allele num: 65416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.745083e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 1537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528304193666707e-5
allele num: 65432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.743988e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.888e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.557e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
all individuals: 3629
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1556
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GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.188495364868077e-4
allele num: 8414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65394
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.523e-1

FS
type: SiteQuality
SIO_000300: 8.45e-1

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 1.742781e6

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

GenotypeQuality
all individuals: 681
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
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variant carriers: 0

GenotypeQuality
all individuals: 583
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variant carriers: 0

GenotypeQuality
all individuals: 1088
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GenotypeQuality
all individuals: 2457
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540784567501772e-5
allele num: 64902
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.066e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.138e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.63198e6

QD
type: SiteQuality
SIO_000300: 1.356e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

GenotypeQuality
all individuals: 787
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variant carriers: 0

GenotypeQuality
all individuals: 128
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GenotypeQuality
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GenotypeQuality
all individuals: 2131
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GenotypeQuality
all individuals: 464
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.091572373709269e-5
allele num: 64692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.584e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

FS
type: SiteQuality
SIO_000300: 3.802e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.607688e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2228
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GenotypeQuality
all individuals: 1932
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.275297292209219e-5
allele num: 63742
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 1.528886e6

GenotypeQuality
all individuals: 12176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63742
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.015022330491271e-4
allele num: 9852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

QD
type: SiteQuality
SIO_000300: 1.354e1

DP
type: SiteQuality
SIO_000300: 1.528886e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1926
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.145247530980688e-5
allele num: 63588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.524663e6

GenotypeQuality
all individuals: 588
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
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variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
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GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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Latino
type: Population
allele count: 3
allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66062
num of homozygotes: 0

African
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allele count: 154
allele frequency: 1.501560062402496e-2
allele num: 10256
num of homozygotes: 1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 3.729239e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

GenotypeQuality
all individuals: 922
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 808
bin: 8.25e1
variant carriers: 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: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.730158e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.69e0

GenotypeQuality
all individuals: 2163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.35189941868325e-4
allele num: 14794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

FS
type: SiteQuality
SIO_000300: 1.945e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.826e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.730904e6

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2449
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variant carriers: 0

GenotypeQuality
all individuals: 48739
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.793478260869565e-5
allele num: 14720
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 7.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.733364e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.264e0

GenotypeQuality
all individuals: 767
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.659563132658497e-5
allele num: 15016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.744102e6

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.785e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.749e0

GenotypeQuality
all individuals: 1145
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 464
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variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66222
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.189e0

DP
type: SiteQuality
SIO_000300: 3.750568e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.797e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.38e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.852e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 898
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variant carriers: 0

GenotypeQuality
all individuals: 4553
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variant carriers: 0

GenotypeQuality
all individuals: 888
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GenotypeQuality
all individuals: 62
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.459113809585325e-5
allele num: 15482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

FS
type: SiteQuality
SIO_000300: 1.0179e1

VQSLOD
type: SiteQuality
SIO_000300: -1.079e0

DP
type: SiteQuality
SIO_000300: 3.761757e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 937
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GenotypeQuality
all individuals: 66
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.423432682425488e-5
allele num: 15568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.516e0

DP
type: SiteQuality
SIO_000300: 3.764659e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.364e1

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.522022248349462e-5
allele num: 66342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15568
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 894
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 2.516e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.764659e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4967
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

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

South Asian
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allele num: 15752
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VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.769387e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 640
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.71e-2

FS
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.916e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

Other
type: Population
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South Asian
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allele count: 0
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African
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allele frequency: 9.626492106276473e-5
allele num: 10388
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.17741e2

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

DP
type: SiteQuality
SIO_000300: 3.776152e6

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48761
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5404
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16046
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

FS
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 3.778485e6

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16046
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007971123477215e-5
allele num: 66490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 3.778485e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.213e0

FS
type: SiteQuality
SIO_000300: 2.1339e2

MQ
type: SiteQuality
SIO_000300: 5.734e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.017e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -2.128e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.943e0

DP
type: SiteQuality
SIO_000300: 3.783387e6

QD
type: SiteQuality
SIO_000300: 4.56e0

GenotypeQuality
all individuals: 541
bin: 4.75e1
variant carriers: 84

GenotypeQuality
all individuals: 448
bin: 2.75e1
variant carriers: 109

GenotypeQuality
all individuals: 671
bin: 2.25e1
variant carriers: 120

GenotypeQuality
all individuals: 1064
bin: 8.75e1
variant carriers: 29

GenotypeQuality
all individuals: 1880
bin: 6.75e1
variant carriers: 49

South Asian
type: Population
allele count: 29
allele frequency: 1.795220997895258e-3
allele num: 16154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 167
allele frequency: 2.675424543415572e-2
allele num: 6242
num of homozygotes: 0

African
type: Population
allele count: 231
allele frequency: 2.33474833232262e-2
allele num: 9894
num of homozygotes: 0

Latino
type: Population
allele count: 165
allele frequency: 1.493482983345402e-2
allele num: 11048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 839
allele frequency: 1.292997164344717e-2
allele num: 64888
num of homozygotes: 0

East Asian
type: Population
allele count: 115
allele frequency: 1.379889608831293e-2
allele num: 8334
num of homozygotes: 0

Other
type: Population
allele count: 15
allele frequency: 1.708428246013667e-2
allele num: 878
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.422e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

DP
type: SiteQuality
SIO_000300: 4.437482e6

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 3.4562e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.339e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.615e0

GenotypeQuality
all individuals: 344
bin: 7.75e1
variant carriers: 57

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 24

GenotypeQuality
all individuals: 56946
bin: 9.75e1
variant carriers: 56085

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 54

GenotypeQuality
all individuals: 1852
bin: 6.25e1
variant carriers: 19

Latino
type: Population
allele count: 8600
allele frequency: 7.431731766332527e-1
allele num: 11572
num of homozygotes: 3199

South Asian
type: Population
allele count: 12644
allele frequency: 7.659316694935788e-1
allele num: 16508
num of homozygotes: 4873

European (Non-Finnish)
type: Population
allele count: 50343
allele frequency: 7.545639857309872e-1
allele num: 66718
num of homozygotes: 19100

African
type: Population
allele count: 7089
allele frequency: 6.813725490196079e-1
allele num: 10404
num of homozygotes: 2424

Other
type: Population
allele count: 666
allele frequency: 7.334801762114538e-1
allele num: 908
num of homozygotes: 250

East Asian
type: Population
allele count: 5508
allele frequency: 6.380908248378128e-1
allele num: 8632
num of homozygotes: 1773

European (Finnish)
type: Population
allele count: 5452
allele frequency: 8.243120653159963e-1
allele num: 6614
num of homozygotes: 2247

DP
type: SiteQuality
SIO_000300: 7.960855e6

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 2.585e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 25571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12222
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494004796163069e-5
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 2.276711e6

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

GenotypeQuality
all individuals: 2348
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.757e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 2.276117e6

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

GenotypeQuality
all individuals: 8557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 2.275646e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.02e0

QD
type: SiteQuality
SIO_000300: 2.656e1

VQSLOD
type: SiteQuality
SIO_000300: -2.632e0

FS
type: SiteQuality
SIO_000300: 6.41e-1

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

GenotypeQuality
all individuals: 25674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

FS
type: SiteQuality
SIO_000300: 2.247e0

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.275504e6

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 25674
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GenotypeQuality
all individuals: 3280
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variant carriers: 0

GenotypeQuality
all individuals: 8559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
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: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.973e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -4.447e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

DP
type: SiteQuality
SIO_000300: 2.275471e6

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2349
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GenotypeQuality
all individuals: 12204
bin: 9.75e1
variant carriers: 51

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 50
allele frequency: 3.028467595396729e-3
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.276013e6

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.272947e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
all individuals: 1522
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12154
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 2.272697e6

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0