19-17394946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17394946
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17394946
    reference: chr 19
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1169C>T
  hgvsp: ENSP00000470895.1:p.Thr390Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1235C>T
  hgvsp: ENSP00000384008.1:p.Thr412Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1247C>T
  hgvsp: ENSP00000377971.3:p.Thr416Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1360C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+253C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1136C>T
  hgvsp: ENSP00000468845.1:p.Thr379Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+253C>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr416Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS

19-17394947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17394947
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17394947
    reference: chr 19
allele count: 2
allele frequency: 1.661377946869133e-5
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1170G>A
  hgvsp: ENST00000598347.1:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+254G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1236G>A
  hgvsp: ENST00000404085.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1137G>A
  hgvsp: ENST00000594072.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1361G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1248G>A
  hgvsp: ENST00000394458.3:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+254G>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr416Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-17394961-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17394961
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17394961
    reference: chr 19
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+268A>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1151A>C
  hgvsp: ENSP00000468845.1:p.Asp384Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1262A>C
  hgvsp: ENSP00000377971.3:p.Asp421Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+268A>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1250A>C
  hgvsp: ENSP00000384008.1:p.Asp417Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1184A>C
  hgvsp: ENSP00000470895.1:p.Asp395Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1375A>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15104
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp421Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-17394980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17394980
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17394980
    reference: chr 19
allele count: 3
allele frequency: 2.490825459557297e-5
allele num: 120442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1394C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1170C>T
  hgvsp: ENST00000594072.1:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1269C>T
  hgvsp: ENST00000404085.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+287C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1203C>T
  hgvsp: ENST00000598347.1:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1281C>T
  hgvsp: ENST00000394458.3:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+287C>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16334
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4506
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp427Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-17394981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17394981
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17394981
    reference: chr 19
allele count: 119
allele frequency: 9.880438392560612e-4
allele num: 120440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1395G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+288G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1171G>A
  hgvsp: ENSP00000468845.1:p.Ala391Thr
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1282G>A
  hgvsp: ENSP00000377971.3:p.Ala428Thr
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+288G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1204G>A
  hgvsp: ENSP00000470895.1:p.Ala402Thr
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1270G>A
  hgvsp: ENSP00000384008.1:p.Ala424Thr
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala428Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-17394981-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17394981
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17394981
    reference: chr 19
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1270G>C
  hgvsp: ENSP00000384008.1:p.Ala424Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1204G>C
  hgvsp: ENSP00000470895.1:p.Ala402Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1171G>C
  hgvsp: ENSP00000468845.1:p.Ala391Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+288G>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1395G>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+288G>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1282G>C
  hgvsp: ENSP00000377971.3:p.Ala428Pro
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala428Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

19-17394982-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17394982
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17394982
    reference: chr 19
allele count: 5
allele frequency: 4.151927324664109e-5
allele num: 120426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1396C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1172C>G
  hgvsp: ENSP00000468845.1:p.Ala391Gly
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+289C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1205C>G
  hgvsp: ENSP00000470895.1:p.Ala402Gly
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1271C>G
  hgvsp: ENSP00000384008.1:p.Ala424Gly
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+289C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1283C>G
  hgvsp: ENSP00000377971.3:p.Ala428Gly
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala428Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-17394982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17394982
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17394982
    reference: chr 19
allele count: 6
allele frequency: 4.982312789596931e-5
allele num: 120426
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1283C>T
  hgvsp: ENSP00000377971.3:p.Ala428Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1271C>T
  hgvsp: ENSP00000384008.1:p.Ala424Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1396C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1205C>T
  hgvsp: ENSP00000470895.1:p.Ala402Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+289C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+289C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1172C>T
  hgvsp: ENSP00000468845.1:p.Ala391Val
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala428Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-17394983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17394983
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17394983
    reference: chr 19
allele count: 2
allele frequency: 1.66024704476026e-5
allele num: 120464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1272G>A
  hgvsp: ENST00000404085.1:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+290G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1206G>A
  hgvsp: ENST00000598347.1:c.1206G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1397G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+290G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1284G>A
  hgvsp: ENST00000394458.3:c.1284G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1173G>A
  hgvsp: ENST00000594072.1:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala428Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

19-17395002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395002
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395002
    reference: chr 19
allele count: 3
allele frequency: 2.489089491064169e-5
allele num: 120526
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1303C>T
  hgvsp: ENSP00000377971.3:p.Gln435Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1225C>T
  hgvsp: ENSP00000470895.1:p.Gln409Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1192C>T
  hgvsp: ENSP00000468845.1:p.Gln398Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+309C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1291C>T
  hgvsp: ENSP00000384008.1:p.Gln431Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1416C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+309C>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln435Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-17395003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395003
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395003
    reference: chr 19
allele count: 87069
allele frequency: 7.205551325763845e-1
allele num: 120836
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1304A>G
  hgvsp: ENSP00000377971.3:p.Gln435Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1193A>G
  hgvsp: ENSP00000468845.1:p.Gln398Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1292A>G
  hgvsp: ENSP00000384008.1:p.Gln431Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1226A>G
  hgvsp: ENSP00000470895.1:p.Gln409Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+310A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1417A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+310A>G
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.25e1
  variant carriers: 4670
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 5.75e1
  variant carriers: 4954
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 4.75e1
  variant carriers: 5084
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.25e1
  variant carriers: 2533
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 2.75e1
  variant carriers: 1695
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 3240
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 2.25e1
  variant carriers: 993
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 4037
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 4.25e1
  variant carriers: 4256
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 3.75e1
  variant carriers: 3524
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 550
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 2542
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 9.75e1
  variant carriers: 6007
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 8.75e1
  variant carriers: 1593
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 8.25e1
  variant carriers: 2050
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.25e1
  variant carriers: 1164
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 5.25e1
  variant carriers: 5043
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 614
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 219
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 287
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 21
hgvs: p.Gln435Arg
num of homozygotes: 32899
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

19-17395015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395015
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395015
    reference: chr 19
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1238C>T
  hgvsp: ENSP00000470895.1:p.Ala413Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+322C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1205C>T
  hgvsp: ENSP00000468845.1:p.Ala402Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+322C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1429C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1304C>T
  hgvsp: ENSP00000384008.1:p.Ala435Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1316C>T
  hgvsp: ENSP00000377971.3:p.Ala439Val
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala439Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

19-17395020-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395020
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395020
    reference: chr 19
allele count: 2
allele frequency: 1.656616526406467e-5
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+327A>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1434A>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1243A>T
  hgvsp: ENSP00000470895.1:p.Arg415Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1321A>T
  hgvsp: ENSP00000377971.3:p.Arg441Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1210A>T
  hgvsp: ENSP00000468845.1:p.Arg404Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1309A>T
  hgvsp: ENSP00000384008.1:p.Arg437Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+327A>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg441Trp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-17395022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395022
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395022
    reference: chr 19
allele count: 23
allele frequency: 1.904604173567407e-4
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1212G>A
  hgvsp: ENST00000594072.1:c.1212G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1311G>A
  hgvsp: ENST00000404085.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1245G>A
  hgvsp: ENST00000598347.1:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+329G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1323G>A
  hgvsp: ENST00000394458.3:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+329G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1436G>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg441Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-17395026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395026
    reference: chr 19
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1315C>T
  hgvsp: ENSP00000384008.1:p.Arg439Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+333C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1216C>T
  hgvsp: ENSP00000468845.1:p.Arg406Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+333C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1249C>T
  hgvsp: ENSP00000470895.1:p.Arg417Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1440C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1327C>T
  hgvsp: ENSP00000377971.3:p.Arg443Trp
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg443Trp
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-17395029-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395029
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395029
    reference: chr 19
allele count: 4
allele frequency: 3.311861431717697e-5
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1318G>T
  hgvsp: ENSP00000384008.1:p.Glu440Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1330G>T
  hgvsp: ENSP00000377971.3:p.Glu444Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1443G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1219G>T
  hgvsp: ENSP00000468845.1:p.Glu407Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1252G>T
  hgvsp: ENSP00000470895.1:p.Glu418Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+336G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+336G>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu444Ter
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-17395034-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395034
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395034
    reference: chr 19
allele count: 3
allele frequency: 2.484142887898912e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1224G>T
  hgvsp: ENST00000594072.1:c.1224G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+341G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1335G>T
  hgvsp: ENST00000394458.3:c.1335G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1448G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+341G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1323G>T
  hgvsp: ENST00000404085.1:c.1323G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1257G>T
  hgvsp: ENST00000598347.1:c.1257G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly445Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

19-17395037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395037
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395037
    reference: chr 19
allele count: 21
allele frequency: 1.738871224165342e-4
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+344C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1260C>T
  hgvsp: ENST00000598347.1:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1338C>T
  hgvsp: ENST00000394458.3:c.1338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+344C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1227C>T
  hgvsp: ENST00000594072.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1451C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1326C>T
  hgvsp: ENST00000404085.1:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6773
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val446Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-17395038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395038
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395038
    reference: chr 19
allele count: 590
allele frequency: 4.885642834666534e-3
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1327G>A
  hgvsp: ENSP00000384008.1:p.Val443Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+345G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1339G>A
  hgvsp: ENSP00000377971.3:p.Val447Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1452G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1261G>A
  hgvsp: ENSP00000470895.1:p.Val421Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1228G>A
  hgvsp: ENSP00000468845.1:p.Val410Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+345G>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 4.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 4.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 3.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 6.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 9.25e1
  variant carriers: 3
hgvs: p.Val447Met
num of homozygotes: 19
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-17395055-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395055
    reference: chr 19
allele count: 2
allele frequency: 1.653986106516705e-5
allele num: 120920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1469C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+362C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1356C>A
  hgvsp: ENST00000394458.3:c.1356C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+362C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1278C>A
  hgvsp: ENST00000598347.1:c.1278C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1245C>A
  hgvsp: ENST00000594072.1:c.1245C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1344C>A
  hgvsp: ENST00000404085.1:c.1344C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr452Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-17395055-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395055
    reference: chr 19
allele count: 87161
allele frequency: 7.208154151505127e-1
allele num: 120920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+362C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1344C>G
  hgvsp: ENST00000404085.1:c.1344C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1356C>G
  hgvsp: ENST00000394458.3:c.1356C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+362C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1278C>G
  hgvsp: ENST00000598347.1:c.1278C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1245C>G
  hgvsp: ENST00000594072.1:c.1245C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1469C>G
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.75e1
  variant carriers: 1756
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 633
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 9.75e1
  variant carriers: 2670
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 4.75e1
  variant carriers: 5250
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 2714
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 6.25e1
  variant carriers: 5184
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.25e1
  variant carriers: 2695
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 5.25e1
  variant carriers: 5601
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 4.25e1
  variant carriers: 4642
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 1064
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 3.75e1
  variant carriers: 3701
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.25e1
  variant carriers: 3549
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 9.25e1
  variant carriers: 1099
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 8.75e1
  variant carriers: 1528
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 5.75e1
  variant carriers: 5472
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 8.25e1
  variant carriers: 2052
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 6.75e1
  variant carriers: 4306
genotype quality: GenotypeQuality
  all individuals: 50520
  bin: 9.75e1
  variant carriers: 50190
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 9.25e1
  variant carriers: 739
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 219
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 6.75e1
  variant carriers: 351
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 13
hgvs: p.Thr452Thr
num of homozygotes: 32944
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-17395056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395056
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395056
    reference: chr 19
allele count: 6
allele frequency: 4.995504046358277e-5
allele num: 120108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1279T>C
  hgvsp: ENSP00000470895.1:p.Tyr427His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+363T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1246T>C
  hgvsp: ENSP00000468845.1:p.Tyr416His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1470T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+363T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1345T>C
  hgvsp: ENSP00000384008.1:p.Tyr449His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1357T>C
  hgvsp: ENSP00000377971.3:p.Tyr453His
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27765
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35994
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr453His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-17395057-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395057
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395057
    reference: chr 19
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+364A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1247A>G
  hgvsp: ENSP00000468845.1:p.Tyr416Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+364A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1358A>G
  hgvsp: ENSP00000377971.3:p.Tyr453Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1280A>G
  hgvsp: ENSP00000470895.1:p.Tyr427Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1471A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1346A>G
  hgvsp: ENSP00000384008.1:p.Tyr449Cys
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr453Cys
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

19-17395059-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395059
    reference: chr 19
allele count: 1
allele frequency: 8.329723786359244e-6
allele num: 120052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1249C>G
  hgvsp: ENSP00000468845.1:p.Leu417Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1348C>G
  hgvsp: ENSP00000384008.1:p.Leu450Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+366C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1282C>G
  hgvsp: ENSP00000470895.1:p.Leu428Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+366C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1473C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1360C>G
  hgvsp: ENSP00000377971.3:p.Leu454Val
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu454Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

19-17395064-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395064
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395064
    reference: chr 19
allele count: 1
allele frequency: 8.339031671642289e-6
allele num: 119918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+371G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1353G>T
  hgvsp: ENST00000404085.1:c.1353G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1365G>T
  hgvsp: ENST00000394458.3:c.1365G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1478G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+371G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1287G>T
  hgvsp: ENST00000598347.1:c.1287G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1254G>T
  hgvsp: ENST00000594072.1:c.1254G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu455Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-17395085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395085
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395085
    reference: chr 19
allele count: 2
allele frequency: 1.685260709831811e-5
allele num: 118676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1265+10G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1376+10G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1364+10G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+392G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1298+10G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1489+10G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+392G>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

19-17395093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395093
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395093
    reference: chr 19
allele count: 1
allele frequency: 8.489108473828079e-6
allele num: 117798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+400G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1489+18G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1364+18G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1376+18G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1265+18G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1298+18G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+400G>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-17395094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395094
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395094
    reference: chr 19
allele count: 1
allele frequency: 8.501088139281828e-6
allele num: 117632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1298+19C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1376+19C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1364+19C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+401C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1265+19C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1489+19C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+401C>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-17395109-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395109
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395109
    reference: chr 19
allele count: 1
allele frequency: 8.610149644400819e-6
allele num: 116142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+416C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1364+34C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1376+34C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1489+34C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1298+34C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+416C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1265+34C>G
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17473
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6244
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4841
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6129
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

19-17395110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395110
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395110
    reference: chr 19
allele count: 1
allele frequency: 8.618609301203158e-6
allele num: 116028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1265+35T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1489+35T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+417T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1376+35T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1298+35T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+417T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1364+35T>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

19-17395111-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395111
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395111
    reference: chr 19
allele count: 1
allele frequency: 8.617123948710878e-6
allele num: 116048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1265+36A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+418A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1489+36A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1376+36A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1364+36A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1298+36A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+418A>G
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-17395115-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395115
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395115
    reference: chr 19
allele count: 1
allele frequency: 8.652315359590226e-6
allele num: 115576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+422A>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1376+40A>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+422A>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1265+40A>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1364+40A>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1298+40A>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1489+40A>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7723
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-17395118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395118
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395118
    reference: chr 19
allele count: 3
allele frequency: 2.61269421026963e-5
allele num: 114824
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1376+43T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+425T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+425T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1364+43T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1489+43T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1265+43T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1298+43T>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11084
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

19-17395118-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17395118
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17395118
    reference: chr 19
allele count: 1
allele frequency: 8.708980700898767e-6
allele num: 114824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1120+425T>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1298+43T>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1364+43T>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1282+425T>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1265+43T>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1489+43T>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1376+43T>G
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11084
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

19-17396192-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396192
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396192
    reference: chr 19
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1121-48G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1283-48G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1266-48G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1299-48G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1490-48G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1377-48G>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1365-48G>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19004
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-17396199-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396199
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396199
    reference: chr 19
allele count: 4
allele frequency: 3.322479898996611e-5
allele num: 120392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1490-41T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1365-41T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1121-41T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1266-41T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1299-41T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1377-41T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1283-41T>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19010
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-17396219-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396219
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396219
    reference: chr 19
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1283-21T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1299-21T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1266-21T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1377-21T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1121-21T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1490-21T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1365-21T>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-17396229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396229
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396229
    reference: chr 19
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1377-11C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1266-11C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1299-11C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1283-11C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1121-11C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1365-11C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1490-11C>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-17396248-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396248
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396248
    reference: chr 19
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1307A>G
  hgvsp: ENSP00000470895.1:p.Gln436Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1385A>G
  hgvsp: ENSP00000377971.3:p.Gln462Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1498A>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1129A>G
  hgvsp: ENSP00000384753.4:p.Arg377Gly
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1291A>G
  hgvsp: ENSP00000394460.2:p.Arg431Gly
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1373A>G
  hgvsp: ENSP00000384008.1:p.Gln458Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1274A>G
  hgvsp: ENSP00000468845.1:p.Gln425Arg
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19044
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln462Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-17396253-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396253
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396253
    reference: chr 19
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1296C>A
  hgvsp: ENST00000433424.2:c.1296C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1503C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1312C>A
  hgvsp: ENSP00000470895.1:p.Leu438Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1390C>A
  hgvsp: ENSP00000377971.3:p.Leu464Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1279C>A
  hgvsp: ENSP00000468845.1:p.Leu427Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1378C>A
  hgvsp: ENSP00000384008.1:p.Leu460Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1134C>A
  hgvsp: ENST00000404261.4:c.1134C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu464Met
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-17396254-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396254
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396254
    reference: chr 19
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1280T>C
  hgvsp: ENSP00000468845.1:p.Leu427Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1391T>C
  hgvsp: ENSP00000377971.3:p.Leu464Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1313T>C
  hgvsp: ENSP00000470895.1:p.Leu438Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1297T>C
  hgvsp: ENSP00000394460.2:p.Cys433Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1379T>C
  hgvsp: ENSP00000384008.1:p.Leu460Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1135T>C
  hgvsp: ENSP00000384753.4:p.Cys379Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1504T>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4700
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu464Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

19-17396257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396257
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396257
    reference: chr 19
allele count: 15
allele frequency: 1.238236750866766e-4
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1138C>T
  hgvsp: ENSP00000384753.4:p.Gln380Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1507C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1283C>T
  hgvsp: ENSP00000468845.1:p.Pro428Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1316C>T
  hgvsp: ENSP00000470895.1:p.Pro439Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1382C>T
  hgvsp: ENSP00000384008.1:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1300C>T
  hgvsp: ENSP00000394460.2:p.Gln434Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1394C>T
  hgvsp: ENSP00000377971.3:p.Pro465Leu
  variant of: http://identifiers.org/hgnc/26812
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11546
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7500
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln434Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

19-17396262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396262
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396262
    reference: chr 19
allele count: 3
allele frequency: 2.475615190374808e-5
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1512C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1399C>T
  hgvsp: ENSP00000377971.3:p.Arg467Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1143C>T
  hgvsp: ENST00000404261.4:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1321C>T
  hgvsp: ENSP00000470895.1:p.Arg441Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1387C>T
  hgvsp: ENSP00000384008.1:p.Arg463Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1305C>T
  hgvsp: ENST00000433424.2:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1288C>T
  hgvsp: ENSP00000468845.1:p.Arg430Ter
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19044
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15727
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg467Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-17396263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396263
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396263
    reference: chr 19
allele count: 14
allele frequency: 1.155115511551155e-4
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1289G>A
  hgvsp: ENSP00000468845.1:p.Arg430Gln
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1144G>A
  hgvsp: ENSP00000384753.4:p.Glu382Lys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1306G>A
  hgvsp: ENSP00000394460.2:p.Glu436Lys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1400G>A
  hgvsp: ENSP00000377971.3:p.Arg467Gln
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1388G>A
  hgvsp: ENSP00000384008.1:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1322G>A
  hgvsp: ENSP00000470895.1:p.Arg441Gln
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1513G>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg467Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-17396263-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396263
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396263
    reference: chr 19
allele count: 3
allele frequency: 2.475247524752475e-5
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1400G>T
  hgvsp: ENSP00000377971.3:p.Arg467Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1306G>T
  hgvsp: ENSP00000394460.2:p.Glu436Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1322G>T
  hgvsp: ENSP00000470895.1:p.Arg441Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1144G>T
  hgvsp: ENSP00000384753.4:p.Glu382Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1289G>T
  hgvsp: ENSP00000468845.1:p.Arg430Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1388G>T
  hgvsp: ENSP00000384008.1:p.Arg463Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1513G>T
  variant of: http://identifiers.org/hgnc/26812
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu436Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

19-17396267-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396267
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396267
    reference: chr 19
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1517C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1404C>G
  hgvsp: ENST00000394458.3:c.1404C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1148C>G
  hgvsp: ENSP00000384753.4:p.Pro383Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1326C>G
  hgvsp: ENST00000598347.1:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1392C>G
  hgvsp: ENST00000404085.1:c.1392C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1310C>G
  hgvsp: ENSP00000394460.2:p.Pro437Arg
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1293C>G
  hgvsp: ENST00000594072.1:c.1293C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro437Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-17396272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396272
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396272
    reference: chr 19
allele count: 21
allele frequency: 1.732044472303784e-4
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1409C>T
  hgvsp: ENSP00000377971.3:p.Ser470Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1397C>T
  hgvsp: ENSP00000384008.1:p.Ser466Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1522C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.1315C>T
  hgvsp: ENSP00000394460.2:p.His439Tyr
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1331C>T
  hgvsp: ENSP00000470895.1:p.Ser444Leu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.1153C>T
  hgvsp: ENSP00000384753.4:p.His385Tyr
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1298C>T
  hgvsp: ENSP00000468845.1:p.Ser433Leu
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11573
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19044
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15786
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser470Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/19-17396278-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396278
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396278
    reference: chr 19
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1415C>A
  hgvsp: ENSP00000377971.3:p.Thr472Asn
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1304C>A
  hgvsp: ENSP00000468845.1:p.Thr435Asn
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1337C>A
  hgvsp: ENSP00000470895.1:p.Thr446Asn
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1403C>A
  hgvsp: ENSP00000384008.1:p.Thr468Asn
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1528C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*1C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*1C>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr472Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-17396282-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396282
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396282
    reference: chr 19
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1308A>C
  hgvsp: ENST00000594072.1:c.1308A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1532A>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*5A>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1419A>C
  hgvsp: ENST00000394458.3:c.1419A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*5A>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1341A>C
  hgvsp: ENST00000598347.1:c.1341A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1407A>C
  hgvsp: ENST00000404085.1:c.1407A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro473Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

19-17396283-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396283
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396283
    reference: chr 19
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1309G>C
  hgvsp: ENSP00000468845.1:p.Ala437Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1408G>C
  hgvsp: ENSP00000384008.1:p.Ala470Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1342G>C
  hgvsp: ENSP00000470895.1:p.Ala448Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1533G>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*6G>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1420G>C
  hgvsp: ENSP00000377971.3:p.Ala474Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*6G>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala474Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

19-17396289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396289
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396289
    reference: chr 19
allele count: 21
allele frequency: 1.731359034396333e-4
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1539C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1348C>T
  hgvsp: ENSP00000470895.1:p.Arg450Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1315C>T
  hgvsp: ENSP00000468845.1:p.Arg439Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1426C>T
  hgvsp: ENSP00000377971.3:p.Arg476Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1414C>T
  hgvsp: ENSP00000384008.1:p.Arg472Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*12C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*12C>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg476Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-17396290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396290
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396290
    reference: chr 19
allele count: 10
allele frequency: 8.244974687927708e-5
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*13G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1540G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1415G>A
  hgvsp: ENSP00000384008.1:p.Arg472His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*13G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1316G>A
  hgvsp: ENSP00000468845.1:p.Arg439His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1349G>A
  hgvsp: ENSP00000470895.1:p.Arg450His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1427G>A
  hgvsp: ENSP00000377971.3:p.Arg476His
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg476His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-17396293-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396293
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396293
    reference: chr 19
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*16T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1352T>C
  hgvsp: ENSP00000470895.1:p.Leu451Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1319T>C
  hgvsp: ENSP00000468845.1:p.Leu440Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1418T>C
  hgvsp: ENSP00000384008.1:p.Leu473Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*16T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1430T>C
  hgvsp: ENSP00000377971.3:p.Leu477Pro
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1543T>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19016
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu477Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

19-17396307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396307
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396307
    reference: chr 19
allele count: 9
allele frequency: 7.41986545310645e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1557C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1333C>T
  hgvsp: ENSP00000468845.1:p.Arg445Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1432C>T
  hgvsp: ENSP00000384008.1:p.Arg478Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1366C>T
  hgvsp: ENSP00000470895.1:p.Arg456Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1444C>T
  hgvsp: ENSP00000377971.3:p.Arg482Cys
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*30C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*30C>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19019
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 15811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg482Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

19-17396308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396308
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396308
    reference: chr 19
allele count: 7
allele frequency: 5.771006463527239e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1445G>A
  hgvsp: ENSP00000377971.3:p.Arg482His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*31G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1558G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*31G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1334G>A
  hgvsp: ENSP00000468845.1:p.Arg445His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1367G>A
  hgvsp: ENSP00000470895.1:p.Arg456His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1433G>A
  hgvsp: ENSP00000384008.1:p.Arg478His
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg482His
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-17396321-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396321
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396321
    reference: chr 19
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*44C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1446C>A
  hgvsp: ENSP00000384008.1:p.Tyr482Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1458C>A
  hgvsp: ENSP00000377971.3:p.Tyr486Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1347C>A
  hgvsp: ENSP00000468845.1:p.Tyr449Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1380C>A
  hgvsp: ENSP00000470895.1:p.Tyr460Ter
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*44C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1571C>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr486Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

19-17396321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396321
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396321
    reference: chr 19
allele count: 10
allele frequency: 8.243887157672586e-5
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1347C>T
  hgvsp: ENST00000594072.1:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1458C>T
  hgvsp: ENST00000394458.3:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*44C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1380C>T
  hgvsp: ENST00000598347.1:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1446C>T
  hgvsp: ENST00000404085.1:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1571C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*44C>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr486Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-17396322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396322
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396322
    reference: chr 19
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1381G>A
  hgvsp: ENSP00000470895.1:p.Val461Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1348G>A
  hgvsp: ENSP00000468845.1:p.Val450Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1447G>A
  hgvsp: ENSP00000384008.1:p.Val483Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1459G>A
  hgvsp: ENSP00000377971.3:p.Val487Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*45G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*45G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1572G>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val487Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-17396322-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396322
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396321
    reference: chr 19
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*46delT
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1573delT
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1382delT
  hgvsp: ENSP00000470895.1:p.Val461GlyfsTer68
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1460delT
  hgvsp: ENSP00000377971.3:p.Val487GlyfsTer72
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1448delT
  hgvsp: ENSP00000384008.1:p.Val483GlyfsTer72
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*46delT
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1349delT
  hgvsp: ENSP00000468845.1:p.Val450GlyfsTer72
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val487GlyfsTer72
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: GT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS

19-17396332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396332
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396332
    reference: chr 19
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*55G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*55G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1358G>A
  hgvsp: ENSP00000468845.1:p.Gly453Glu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1469G>A
  hgvsp: ENSP00000377971.3:p.Gly490Glu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1582G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1457G>A
  hgvsp: ENSP00000384008.1:p.Gly486Glu
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1391G>A
  hgvsp: ENSP00000470895.1:p.Gly464Glu
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly490Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-17396332-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396332
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396332
    reference: chr 19
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1391G>C
  hgvsp: ENSP00000470895.1:p.Gly464Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*55G>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1457G>C
  hgvsp: ENSP00000384008.1:p.Gly486Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1582G>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*55G>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1358G>C
  hgvsp: ENSP00000468845.1:p.Gly453Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1469G>C
  hgvsp: ENSP00000377971.3:p.Gly490Ala
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly490Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

19-17396333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396333
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396333
    reference: chr 19
allele count: 488
allele frequency: 4.022552672359788e-3
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1359G>A
  hgvsp: ENST00000594072.1:c.1359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*56G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*56G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1458G>A
  hgvsp: ENST00000404085.1:c.1458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1470G>A
  hgvsp: ENST00000394458.3:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1583G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1392G>A
  hgvsp: ENST00000598347.1:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly490Gly
num of homozygotes: 10
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-17396335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396335
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396335
    reference: chr 19
allele count: 3
allele frequency: 2.473003050037095e-5
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1585C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*58C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1472C>T
  hgvsp: ENSP00000377971.3:p.Thr491Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*58C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1394C>T
  hgvsp: ENSP00000470895.1:p.Thr465Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1361C>T
  hgvsp: ENSP00000468845.1:p.Thr454Met
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1460C>T
  hgvsp: ENSP00000384008.1:p.Thr487Met
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18840
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Thr491Met
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

19-17396336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396336
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396336
    reference: chr 19
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*59G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1473G>A
  hgvsp: ENST00000394458.3:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*59G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1395G>A
  hgvsp: ENST00000598347.1:c.1395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1362G>A
  hgvsp: ENST00000594072.1:c.1362G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1461G>A
  hgvsp: ENST00000404085.1:c.1461G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1586G>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr491Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/19-17396343-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396343
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396343
    reference: chr 19
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1480C>A
  hgvsp: ENST00000394458.3:c.1480C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1402C>A
  hgvsp: ENST00000598347.1:c.1402C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1468C>A
  hgvsp: ENST00000404085.1:c.1468C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1593C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1369C>A
  hgvsp: ENST00000594072.1:c.1369C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*66C>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*66C>A
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7575
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg494Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

19-17396343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396343
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396343
    reference: chr 19
allele count: 14
allele frequency: 1.154182261867467e-4
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1593C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1480C>T
  hgvsp: ENSP00000377971.3:p.Arg494Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*66C>T
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1468C>T
  hgvsp: ENSP00000384008.1:p.Arg490Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1369C>T
  hgvsp: ENSP00000468845.1:p.Arg457Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1402C>T
  hgvsp: ENSP00000470895.1:p.Arg468Trp
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*66C>T
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg494Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-17396344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396344
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396344
    reference: chr 19
allele count: 2121
allele frequency: 1.748441982391928e-2
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*67G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1469G>A
  hgvsp: ENSP00000384008.1:p.Arg490Gln
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1370G>A
  hgvsp: ENSP00000468845.1:p.Arg457Gln
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1594G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1403G>A
  hgvsp: ENSP00000470895.1:p.Arg468Gln
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*67G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1481G>A
  hgvsp: ENSP00000377971.3:p.Arg494Gln
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 9.75e1
  variant carriers: 1799
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  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: 15639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg494Gln
num of homozygotes: 21
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

19-17396349-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396349
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396349
    reference: chr 19
allele count: 3
allele frequency: 2.473288484368817e-5
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*72T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1486T>C
  hgvsp: ENSP00000377971.3:p.Tyr496His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1599T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1408T>C
  hgvsp: ENSP00000470895.1:p.Tyr470His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1375T>C
  hgvsp: ENSP00000468845.1:p.Tyr459His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1474T>C
  hgvsp: ENSP00000384008.1:p.Tyr492His
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*72T>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12085
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17768
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr496His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-17396352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396352
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396352
    reference: chr 19
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1411G>A
  hgvsp: ENSP00000470895.1:p.Val471Ile
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*75G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1378G>A
  hgvsp: ENSP00000468845.1:p.Val460Ile
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1602G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1477G>A
  hgvsp: ENSP00000384008.1:p.Val493Ile
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*75G>A
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1489G>A
  hgvsp: ENSP00000377971.3:p.Val497Ile
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7785
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val497Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

19-17396353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396353
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396353
    reference: chr 19
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1490T>C
  hgvsp: ENSP00000377971.3:p.Val497Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1412T>C
  hgvsp: ENSP00000470895.1:p.Val471Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1603T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1478T>C
  hgvsp: ENSP00000384008.1:p.Val493Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1379T>C
  hgvsp: ENSP00000468845.1:p.Val460Ala
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*76T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*76T>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17765
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val497Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

19-17396370-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396370
    reference: chr 19
allele count: 22
allele frequency: 1.814014083345702e-4
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1620C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*93C>G
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1507C>G
  hgvsp: ENSP00000377971.3:p.Leu503Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1429C>G
  hgvsp: ENSP00000470895.1:p.Leu477Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1396C>G
  hgvsp: ENSP00000468845.1:p.Leu466Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1495C>G
  hgvsp: ENSP00000384008.1:p.Leu499Val
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*93C>G
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15971
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu503Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

19-17396372-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17396372
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17396372
    reference: chr 19
allele count: 7
allele frequency: 5.772243753607652e-5
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160117
  ensembl transcript: ENST00000596626
  gene symbol: ANKLE1
  hgvsc: ENST00000596626.1:n.1622T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384753
  ensembl transcript: ENST00000404261
  gene symbol: ANKLE1
  hgvsc: ENST00000404261.4:c.*95T>C
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000468845
  ensembl transcript: ENST00000594072
  gene symbol: ANKLE1
  hgvsc: ENST00000594072.1:c.1398T>C
  hgvsp: ENST00000594072.1:c.1398T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000377971
  ensembl transcript: ENST00000394458
  gene symbol: ANKLE1
  hgvsc: ENST00000394458.3:c.1509T>C
  hgvsp: ENST00000394458.3:c.1509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000384008
  ensembl transcript: ENST00000404085
  gene symbol: ANKLE1
  hgvsc: ENST00000404085.1:c.1497T>C
  hgvsp: ENST00000404085.1:c.1497T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000470895
  ensembl transcript: ENST00000598347
  gene symbol: ANKLE1
  hgvsc: ENST00000598347.1:c.1431T>C
  hgvsp: ENST00000598347.1:c.1431T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160117
  ensembl protein: ENSP00000394460
  ensembl transcript: ENST00000433424
  gene symbol: ANKLE1
  hgvsc: ENST00000433424.2:c.*95T>C
  variant of: http://identifiers.org/hgnc/26812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 2
hgvs: p.Leu503Leu
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 453
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14686
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4332
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516622179082747e-5
allele num: 65936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.416e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

DP
type: SiteQuality
SIO_000300: 2.181585e6

FS
type: SiteQuality
SIO_000300: 7.371e0

GenotypeQuality
all individuals: 459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4776
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16269
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6923
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-5
allele num: 65920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 2.182417e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.673e0

FS
type: SiteQuality
SIO_000300: 1.3058e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4879
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65982
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: 6596
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

DP
type: SiteQuality
SIO_000300: 2.18685e6

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4988
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15165
bin: 6.25e1
variant carriers: 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: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.548762736535663e-5
allele num: 65952
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.193885e6

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 6.118e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.301e0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16425
bin: 9.75e1
variant carriers: 118

GenotypeQuality
all individuals: 3327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4506
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.335009537020982e-4
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

African
type: Population
allele count: 111
allele frequency: 1.076207097149505e-2
allele num: 10314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.102e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
type: SiteQuality
SIO_000300: 2.195981e6

GenotypeQuality
all individuals: 4189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16425
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

FS
type: SiteQuality
SIO_000300: 1.102e0

DP
type: SiteQuality
SIO_000300: 2.195981e6

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 4518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16390
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.066120715802245e-5
allele num: 65940
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 2.196237e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 4997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16390
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 15286
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.850601474582848e-4
allele num: 10308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516530178950561e-5
allele num: 65940
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 2.196237e6

QD
type: SiteQuality
SIO_000300: 1.053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 16398
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 569
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
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GenotypeQuality
all individuals: 283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7144
bin: 6.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515840533575868e-5
allele num: 65970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.189e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

FS
type: SiteQuality
SIO_000300: 9.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.196984e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7071
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
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variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16462
bin: 9.75e1
variant carriers: 3

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514600751241973e-5
allele num: 66024
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.372e1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 7.122e0

DP
type: SiteQuality
SIO_000300: 2.203737e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.807e0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 104

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 157

GenotypeQuality
all individuals: 4013
bin: 6.25e1
variant carriers: 299

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 42

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 14

GenotypeQuality
all individuals: 1396
bin: 6.75e1
variant carriers: 375

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 96

GenotypeQuality
all individuals: 515
bin: 8.75e1
variant carriers: 435

GenotypeQuality
all individuals: 842
bin: 7.75e1
variant carriers: 478

GenotypeQuality
all individuals: 779
bin: 9.25e1
variant carriers: 681

GenotypeQuality
all individuals: 50496
bin: 9.75e1
variant carriers: 50157

East Asian
type: Population
allele count: 2677
allele frequency: 3.107731599721384e-1
allele num: 8614
num of homozygotes: 417

European (Finnish)
type: Population
allele count: 5807
allele frequency: 8.795819448651924e-1
allele num: 6602
num of homozygotes: 2560

African
type: Population
allele count: 8204
allele frequency: 7.911282545805207e-1
allele num: 10370
num of homozygotes: 3254

European (Non-Finnish)
type: Population
allele count: 53601
allele frequency: 8.083883811419781e-1
allele num: 66306
num of homozygotes: 21683

Other
type: Population
allele count: 674
allele frequency: 7.45575221238938e-1
allele num: 904
num of homozygotes: 254

South Asian
type: Population
allele count: 10295
allele frequency: 6.239393939393939e-1
allele num: 16500
num of homozygotes: 3226

Latino
type: Population
allele count: 5811
allele frequency: 5.035528596187175e-1
allele num: 11540
num of homozygotes: 1505

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

FS
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 3.604563e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.178e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.3e0

QD
type: SiteQuality
SIO_000300: 2.342e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

GenotypeQuality
all individuals: 6586
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40174
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 7.5e0
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: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
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: 902
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 3.071153e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.845e0

FS
type: SiteQuality
SIO_000300: 3.195e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40176
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6186
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.069023e6

FS
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.233e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.167e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -3.041e-1

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40182
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 1310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 6.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.171534720753919e-4
allele num: 66214
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

DP
type: SiteQuality
SIO_000300: 3.069097e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

FS
type: SiteQuality
SIO_000300: 3.243e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

QD
type: SiteQuality
SIO_000300: 1.016e1

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2289
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 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: 66214
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
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: 16508
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.386e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 3.184e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 3.068893e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40173
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
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GenotypeQuality
all individuals: 2143
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variant carriers: 0

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

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.039376736320811e-5
allele num: 66232
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.206e0

FS
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 3.068664e6

GenotypeQuality
all individuals: 278
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
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GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40170
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 462
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53035336756267e-5
allele num: 66220
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.779e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

DP
type: SiteQuality
SIO_000300: 3.06893e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 7.43e0

GenotypeQuality
all individuals: 1320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40168
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 2295
bin: 9.25e1
variant carriers: 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: 9.676795045480937e-5
allele num: 10334
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: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.63460140537921e-4
allele num: 16508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 14
allele frequency: 1.620745542949757e-3
allele num: 8638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

DP
type: SiteQuality
SIO_000300: 3.068878e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.147e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

QD
type: SiteQuality
SIO_000300: 1.006e1

GenotypeQuality
all individuals: 40356
bin: 9.75e1
variant carriers: 564

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 525
allele frequency: 5.080317398877492e-2
allele num: 10334
num of homozygotes: 19

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
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: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.336448598130841e-3
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.325942350332594e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.134710643953123e-4
allele num: 66216
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.35e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

DP
type: SiteQuality
SIO_000300: 3.07231e6

QD
type: SiteQuality
SIO_000300: 1.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeQuality
all individuals: 828
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50520
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 1.168e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 2.419e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.183e-1

DP
type: SiteQuality
SIO_000300: 3.326199e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

GenotypeQuality
all individuals: 825
bin: 7.75e1
variant carriers: 466

GenotypeQuality
all individuals: 4023
bin: 6.25e1
variant carriers: 304

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 42

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 55

GenotypeQuality
all individuals: 828
bin: 8.25e1
variant carriers: 602

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 41

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 144

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 186

GenotypeQuality
all individuals: 633
bin: 7.25e1
variant carriers: 294

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 113

GenotypeQuality
all individuals: 500
bin: 8.75e1
variant carriers: 421

European (Finnish)
type: Population
allele count: 5810
allele frequency: 8.795034816833182e-1
allele num: 6606
num of homozygotes: 2561

East Asian
type: Population
allele count: 2690
allele frequency: 3.119925771282765e-1
allele num: 8622
num of homozygotes: 427

South Asian
type: Population
allele count: 10303
allele frequency: 6.241972616018417e-1
allele num: 16506
num of homozygotes: 3230

Latino
type: Population
allele count: 5814
allele frequency: 5.03987517337032e-1
allele num: 11536
num of homozygotes: 1507

Other
type: Population
allele count: 673
allele frequency: 7.444690265486725e-1
allele num: 904
num of homozygotes: 254

European (Non-Finnish)
type: Population
allele count: 53672
allele frequency: 8.084350052718783e-1
allele num: 66390
num of homozygotes: 21712

African
type: Population
allele count: 8199
allele frequency: 7.917149478563151e-1
allele num: 10356
num of homozygotes: 3253

QD
type: SiteQuality
SIO_000300: 2.419e1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.183e-1

FS
type: SiteQuality
SIO_000300: 1.168e0

DP
type: SiteQuality
SIO_000300: 3.326199e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 10302
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.597860442499392e-5
allele num: 65808
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.48e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.7908e6

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36092
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65800
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

QD
type: SiteQuality
SIO_000300: 8.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.790389e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.131e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 3.408e0

GenotypeQuality
all individuals: 868
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 640
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52031135976648e-5
allele num: 65776
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.038e1

FS
type: SiteQuality
SIO_000300: 8.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 1.789113e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.639e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

DP
type: SiteQuality
SIO_000300: 1.783509e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
all individuals: 34070
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3064
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.071724773460298e-5
allele num: 65110
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: 6590
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

QD
type: SiteQuality
SIO_000300: 1.918e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.913e0

FS
type: SiteQuality
SIO_000300: 2.451e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.731021e6

VQSLOD
type: SiteQuality
SIO_000300: -3.623e-1

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32298
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.040149781568546e-4
allele num: 9614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e0

QD
type: SiteQuality
SIO_000300: 1.193e1

FS
type: SiteQuality
SIO_000300: 1.145e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 1.67552e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
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variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

DP
type: SiteQuality
SIO_000300: 1.664788e6

FS
type: SiteQuality
SIO_000300: 1.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.207e0

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 549
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1471
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variant carriers: 0

GenotypeQuality
all individuals: 22371
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566808723990975e-5
allele num: 63824
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

DP
type: SiteQuality
SIO_000300: 1.501882e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.458e0

VQSLOD
type: SiteQuality
SIO_000300: -7.945e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.011e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2386
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variant carriers: 0

GenotypeQuality
all individuals: 6069
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56852903347241e-5
allele num: 63754
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.98e0

VQSLOD
type: SiteQuality
SIO_000300: -2.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.491865e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.107e1

GenotypeQuality
all individuals: 1584
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1463
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567987957852484e-5
allele num: 63776
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.481924e6

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

GenotypeQuality
all individuals: 5523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2472
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573366059347368e-5
allele num: 63558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15562
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.168e0

QD
type: SiteQuality
SIO_000300: 1.571e1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

DP
type: SiteQuality
SIO_000300: 1.445189e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

GenotypeQuality
all individuals: 4181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.539405379896178e-4
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.419599e6

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: -4.963e-1

FS
type: SiteQuality
SIO_000300: 1.432e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

QD
type: SiteQuality
SIO_000300: 1.855e1

GenotypeQuality
all individuals: 607
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.84016973125884e-5
allele num: 11312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63172
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.419599e6

VQSLOD
type: SiteQuality
SIO_000300: -4.963e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

FS
type: SiteQuality
SIO_000300: 1.432e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

QD
type: SiteQuality
SIO_000300: 1.855e1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 199
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
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: 8620
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.051e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

DP
type: SiteQuality
SIO_000300: 2.317644e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

QD
type: SiteQuality
SIO_000300: 9.09e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.464403256539061e-4
allele num: 11546
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

DP
type: SiteQuality
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MQ
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VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.317e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

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

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

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

South Asian
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allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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QD
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DP
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MQ
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SIO_000300: 5.909e1

BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
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InbreedingCoeff
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MQRankSum
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DP
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16502
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.503578516870151e-5
allele num: 66508
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.992e1

DP
type: SiteQuality
SIO_000300: 2.357771e6

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16504
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Other
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66538
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.974e1

ClippingRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
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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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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.50271992306074e-5
allele num: 66546
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South Asian
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Other
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QD
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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African
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allele frequency: 1.448156014674648e-3
allele num: 10358
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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QD
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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allele num: 66574
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European (Finnish)
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Other
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East Asian
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African
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South Asian
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

South Asian
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allele num: 16508
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East Asian
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Latino
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African
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European (Non-Finnish)
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Other
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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African
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Other
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FS
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DP
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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FS
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.07e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.004743747560573e-5
allele num: 66614
num of homozygotes: 0

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

African
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allele count: 14
allele frequency: 1.347449470644851e-3
allele num: 10390
num of homozygotes: 0

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

Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
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Other
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allele num: 904
num of homozygotes: 0

ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66632
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: 1.3e-3

BaseQRankSum
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DP
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.79e-1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
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QD
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.069e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

VQSLOD
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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variant carriers: 21

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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 20
allele frequency: 3.000660145231951e-4
allele num: 66652
num of homozygotes: 0

South Asian
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allele num: 16512
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Other
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East Asian
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.955e1

InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66646
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African
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East Asian
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allele frequency: 4.626416840157298e-4
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European (Finnish)
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South Asian
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allele num: 16512
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Other
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66656
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Other
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10388
num of homozygotes: 0

Latino
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allele num: 11574
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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East Asian
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FS
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
type: Population
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.5004500450045e-5
allele num: 66660
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South Asian
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European (Finnish)
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East Asian
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allele num: 8646
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Latino
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allele num: 11574
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
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SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
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SIO_000300: 2.359881e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 10388
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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SIO_000300: 1.29e1

BaseQRankSum
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SIO_000300: 3.76e-1

InbreedingCoeff
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SIO_000300: 9.0e-4

MQ
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SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.359972e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Finnish)
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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: 10388
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

East Asian
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allele count: 6
allele frequency: 6.936416184971098e-4
allele num: 8650
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
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SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 2.359972e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
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SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.358864e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.834e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

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

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

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

DP
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.344e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.834e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.209e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 10384
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.358735e6

MQRankSum
type: SiteQuality
SIO_000300: -2.66e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.929e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 22
allele frequency: 1.900483759502419e-3
allele num: 11576
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 3.31858407079646e-3
allele num: 904
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European (Non-Finnish)
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allele count: 33
allele frequency: 4.949307097006419e-4
allele num: 66676
num of homozygotes: 0

African
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allele count: 430
allele frequency: 4.140188715578664e-2
allele num: 10386
num of homozygotes: 10

VQSLOD
type: SiteQuality
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DP
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 3.68e-2

QD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.999670036296008e-5
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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Other
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
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: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.343502e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

FS
type: SiteQuality
SIO_000300: 1.244e0

QD
type: SiteQuality
SIO_000300: 1.433e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4071
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4763
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18833
bin: 9.75e1
variant carriers: 14

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

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49985000299994e-5
allele num: 66668
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.853564547206166e-4
allele num: 10380
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.343502e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 1.244e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19075
bin: 9.75e1
variant carriers: 2099

GenotypeQuality
all individuals: 4057
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 17
allele frequency: 1.880530973451328e-2
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1679
allele frequency: 2.518222995470498e-2
allele num: 66674
num of homozygotes: 18

European (Finnish)
type: Population
allele count: 123
allele frequency: 1.859691563350469e-2
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 3.371219418223849e-3
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 122
allele frequency: 1.053904630269523e-2
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 132
allele frequency: 7.994186046511628e-3
allele num: 16512
num of homozygotes: 3

East Asian
type: Population
allele count: 13
allele frequency: 1.503585473051122e-3
allele num: 8646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

DP
type: SiteQuality
SIO_000300: 2.450574e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4894
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.889616644191871e-4
allele num: 10382
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

QD
type: SiteQuality
SIO_000300: 1.472e1

VQSLOD
type: SiteQuality
SIO_000300: 9.74e-1

DP
type: SiteQuality
SIO_000300: 2.239842e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4040
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4204
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.911e0

DP
type: SiteQuality
SIO_000300: 2.239484e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.1829e1

QD
type: SiteQuality
SIO_000300: 1.579e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e0

MQRankSum
type: SiteQuality
SIO_000300: -2.547e0

MQ
type: SiteQuality
SIO_000300: 5.433e1

VQSLOD
type: SiteQuality
SIO_000300: -3.715e0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7789
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4204
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 904
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 1.647e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 2.239499e6

FS
type: SiteQuality
SIO_000300: 2.017e0

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17772
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 2573
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 22
allele frequency: 2.119460500963391e-3
allele num: 10380
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
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: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.239786e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.412e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.696e0

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1