17-4083202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4083202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4083202
    reference: chr 17
allele count: 91
allele frequency: 7.548734964744919e-4
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-7299G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2241-30C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000572564
  gene symbol: ANKFY1
  hgvsc: ENST00000572564.1:n.530C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1915-30C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2367-30C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2244-30C>T
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37968
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-4083206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4083206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4083206
    reference: chr 17
allele count: 6
allele frequency: 4.978261591052404e-5
allele num: 120524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2241-34G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-7295C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1915-34G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000572564
  gene symbol: ANKFY1
  hgvsc: ENST00000572564.1:n.526G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2367-34G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2244-34G>A
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37957
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-4083207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4083207
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4083207
    reference: chr 17
allele count: 35
allele frequency: 2.90384136729445e-4
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2244-35C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000572564
  gene symbol: ANKFY1
  hgvsc: ENST00000572564.1:n.525C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1915-35C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2367-35C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2241-35C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-7294G>A
  variant of: http://identifiers.org/hgnc/28471
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37959
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

17-4083215-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4083215
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4083215
    reference: chr 17
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2244-43G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000572564
  gene symbol: ANKFY1
  hgvsc: ENST00000572564.1:n.517G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1915-43G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2367-43G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2241-43G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-7286C>G
  variant of: http://identifiers.org/hgnc/28471
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-4083219-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4083219
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4083219
    reference: chr 17
allele count: 3
allele frequency: 2.4942631946523e-5
allele num: 120276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-7282C>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1915-47G>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2241-47G>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2367-47G>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000572564
  gene symbol: ANKFY1
  hgvsc: ENST00000572564.1:n.513G>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2244-47G>T
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37950
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50417
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-4083219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4083219
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4083219
    reference: chr 17
allele count: 4
allele frequency: 3.325684259536399e-5
allele num: 120276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-7282C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2244-47G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2367-47G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1915-47G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000572564
  gene symbol: ANKFY1
  hgvsc: ENST00000572564.1:n.513G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2241-47G>A
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37950
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50417
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

17-4083220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4083220
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4083220
    reference: chr 17
allele count: 11045
allele frequency: 9.183503783154569e-2
allele num: 120270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2367-48C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000572564
  gene symbol: ANKFY1
  hgvsc: ENST00000572564.1:n.512C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1915-48C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2241-48C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2244-48C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-7281G>A
  variant of: http://identifiers.org/hgnc/28471
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.75e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 37901
  bin: 9.75e1
  variant carriers: 6961
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.25e1
  variant carriers: 473
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 1.75e1
  variant carriers: 388
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 7.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 8.75e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 9.25e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.25e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 8.25e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 6.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.25e1
  variant carriers: 9
num of homozygotes: 629
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-4083223-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4083223
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4083223
    reference: chr 17
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000572564
  gene symbol: ANKFY1
  hgvsc: ENST00000572564.1:n.509A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2367-51A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-7278T>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1915-51A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2244-51A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2241-51A>G
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37366
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-4083224-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4083224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4083224
    reference: chr 17
allele count: 4
allele frequency: 3.328506998185964e-5
allele num: 120174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-7277A>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2367-52T>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2244-52T>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1915-52T>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2241-52T>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000572564
  gene symbol: ANKFY1
  hgvsc: ENST00000572564.1:n.508T>G
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37366
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50373
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

17-4084504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084504
    reference: chr 17
allele count: 15
allele frequency: 1.253698410310416e-4
allele num: 119646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+45G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5997C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.282G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+45G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+45G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+45G>A
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13491
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-4084512-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084512
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084512
    reference: chr 17
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+37G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.274G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5989C>G
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+37G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+37G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+37G>C
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14116
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-4084514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084514
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084514
    reference: chr 17
allele count: 120
allele frequency: 1.002389027181449e-3
allele num: 119714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+35T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+35T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.272T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+35T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+35T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5987A>G
  variant of: http://identifiers.org/hgnc/28471
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14296
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13194
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 15734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16231
  bin: 9.75e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-4084519-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084519
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084519
    reference: chr 17
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+30C>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5982G>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+30C>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+30C>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+30C>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.267C>A
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-4084523-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084523
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084523
    reference: chr 17
allele count: 10
allele frequency: 8.3462700519138e-5
allele num: 119814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+26A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+26A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+26A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.263A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5978T>G
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+26A>C
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13588
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16190
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-4084531-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084531
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084531
    reference: chr 17
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+18A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+18A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+18A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5970T>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+18A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.255A>G
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13940
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

17-4084532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084532
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084532
    reference: chr 17
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+17T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+17T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.254T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+17T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+17T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5969A>G
  variant of: http://identifiers.org/hgnc/28471
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 15335
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

17-4084534-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084534
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084535
    reference: chr 17
allele count: 1
allele frequency: 8.33541718763024e-6
allele num: 119970
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+14dupC
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.251dupC
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5963dupG
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+14dupC
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+14dupC
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+14dupC
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16204
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17862
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

17-4084540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084540
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084540
    reference: chr 17
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+9G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5961C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+9G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+9G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+9G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.246G>A
  variant of: http://identifiers.org/hgnc/20763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-4084542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084542
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084542
    reference: chr 17
allele count: 1
allele frequency: 8.329723786359244e-6
allele num: 120052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+7G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5959C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+7G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.244G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+7G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+7G>A
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10614
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2366+7G>A
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-4084544-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084544
    reference: chr 17
allele count: 1
allele frequency: 8.328752519447637e-6
allele num: 120066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1914+5G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2243+5G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2366+5G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5957C>G
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2240+5G>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.242G>C
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14484
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2366+5G>C
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-4084552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084552
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084552
    reference: chr 17
allele count: 3
allele frequency: 2.496214075319099e-5
allele num: 120182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.234G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2240G>A
  hgvsp: ENSP00000459775.1:p.Arg747His
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5949C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1911G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2237G>A
  hgvsp: ENSP00000343362.4:p.Arg746His
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2363G>A
  hgvsp: ENSP00000459943.1:p.Arg788His
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16229
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg788His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-4084553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084553
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084553
    reference: chr 17
allele count: 2
allele frequency: 1.663506005256679e-5
allele num: 120228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1910C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2236C>T
  hgvsp: ENSP00000343362.4:p.Arg746Cys
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2239C>T
  hgvsp: ENSP00000459775.1:p.Arg747Cys
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.233C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5948G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2362C>T
  hgvsp: ENSP00000459943.1:p.Arg788Cys
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg788Cys
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-4084559-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084559
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084558
    reference: chr 17
allele count: 1
allele frequency: 8.311722853913159e-6
allele num: 120312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2232delT
  hgvsp: ENSP00000459775.1:p.Ile746PhefsTer7
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2229delT
  hgvsp: ENSP00000343362.4:p.Ile745PhefsTer7
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2355delT
  hgvsp: ENSP00000459943.1:p.Ile787PhefsTer7
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1903delT
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.226delT
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5939delA
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4738
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile787PhefsTer7
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: GA
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

17-4084561-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084561
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084561
    reference: chr 17
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2354T>C
  hgvsp: ENSP00000459943.1:p.Phe785Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2231T>C
  hgvsp: ENSP00000459775.1:p.Phe744Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1902T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2228T>C
  hgvsp: ENSP00000343362.4:p.Phe743Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.225T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5940A>G
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe785Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-4084564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084564
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084564
    reference: chr 17
allele count: 1
allele frequency: 8.308684236764266e-6
allele num: 120356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2228G>A
  hgvsp: ENSP00000459775.1:p.Cys743Tyr
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2225G>A
  hgvsp: ENSP00000343362.4:p.Cys742Tyr
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5937C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2351G>A
  hgvsp: ENSP00000459943.1:p.Cys784Tyr
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1899G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.222G>A
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys784Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-4084567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084567
    reference: chr 17
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2222C>T
  hgvsp: ENSP00000343362.4:p.Ala741Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2348C>T
  hgvsp: ENSP00000459943.1:p.Ala783Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.219C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5934G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2225C>T
  hgvsp: ENSP00000459775.1:p.Ala742Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1896C>T
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala783Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-4084568-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084568
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084568
    reference: chr 17
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2224G>T
  hgvsp: ENSP00000459775.1:p.Ala742Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5933C>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2347G>T
  hgvsp: ENSP00000459943.1:p.Ala783Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1895G>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2221G>T
  hgvsp: ENSP00000343362.4:p.Ala741Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.218G>T
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala783Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-4084569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084569
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084569
    reference: chr 17
allele count: 2
allele frequency: 1.661129568106312e-5
allele num: 120400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1894C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2346C>T
  hgvsp: ENST00000570535.1:c.2346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2223C>T
  hgvsp: ENST00000574367.1:c.2223C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2220C>T
  hgvsp: ENST00000341657.4:c.2220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.217C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5932G>A
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16249
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr782Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-4084572-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084572
    reference: chr 17
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1891C>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2343C>A
  hgvsp: ENST00000570535.1:c.2343C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.214C>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2217C>A
  hgvsp: ENST00000341657.4:c.2217C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2220C>A
  hgvsp: ENST00000574367.1:c.2220C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5929G>T
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16256
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro781Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-4084575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084575
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084575
    reference: chr 17
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5926C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2340G>A
  hgvsp: ENST00000570535.1:c.2340G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.211G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2214G>A
  hgvsp: ENST00000341657.4:c.2214G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2217G>A
  hgvsp: ENST00000574367.1:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1888G>A
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu780Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

17-4084577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084577
    reference: chr 17
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1886G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2215G>A
  hgvsp: ENSP00000459775.1:p.Glu739Lys
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.209G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2338G>A
  hgvsp: ENSP00000459943.1:p.Glu780Lys
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2212G>A
  hgvsp: ENSP00000343362.4:p.Glu738Lys
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5924C>T
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu780Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-4084577-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084576
    reference: chr 17
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.208delC
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1885delC
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5923delG
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2337delC
  hgvsp: ENSP00000459943.1:p.Asn779LysfsTer15
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2211delC
  hgvsp: ENSP00000343362.4:p.Asn737LysfsTer15
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2214delC
  hgvsp: ENSP00000459775.1:p.Asn738LysfsTer15
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15292
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn779LysfsTer15
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: CG
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-4084578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084578
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084578
    reference: chr 17
allele count: 6
allele frequency: 4.979005194762086e-5
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.208C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5923G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2214C>T
  hgvsp: ENST00000574367.1:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2211C>T
  hgvsp: ENST00000341657.4:c.2211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2337C>T
  hgvsp: ENST00000570535.1:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1885C>T
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11186
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16272
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn779Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-4084579-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084579
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084579
    reference: chr 17
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2336A>G
  hgvsp: ENSP00000459943.1:p.Asn779Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.207A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2210A>G
  hgvsp: ENSP00000343362.4:p.Asn737Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2213A>G
  hgvsp: ENSP00000459775.1:p.Asn738Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5922T>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1884A>G
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn779Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

17-4084592-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084592
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084592
    reference: chr 17
allele count: 5
allele frequency: 4.146418323851856e-5
allele num: 120586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1871A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2323A>G
  hgvsp: ENSP00000459943.1:p.Ile775Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.194A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2200A>G
  hgvsp: ENSP00000459775.1:p.Ile734Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2197A>G
  hgvsp: ENSP00000343362.4:p.Ile733Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5909T>C
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile775Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-4084608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084608
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084608
    reference: chr 17
allele count: 730
allele frequency: 6.051161325618793e-3
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2184G>A
  hgvsp: ENST00000574367.1:c.2184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2181G>A
  hgvsp: ENST00000341657.4:c.2181G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2307G>A
  hgvsp: ENST00000570535.1:c.2307G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.178G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1855G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5893C>T
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 15445
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 4.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr769Thr
num of homozygotes: 35
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-4084609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084609
    reference: chr 17
allele count: 3
allele frequency: 2.486407638244265e-5
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2180C>T
  hgvsp: ENSP00000343362.4:p.Thr727Met
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2306C>T
  hgvsp: ENSP00000459943.1:p.Thr769Met
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2183C>T
  hgvsp: ENSP00000459775.1:p.Thr728Met
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5892G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1854C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.177C>T
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16544
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr769Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-4084616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084616
    reference: chr 17
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1847C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5885G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2176C>T
  hgvsp: ENSP00000459775.1:p.Leu726Phe
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.170C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2299C>T
  hgvsp: ENSP00000459943.1:p.Leu767Phe
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2173C>T
  hgvsp: ENSP00000343362.4:p.Leu725Phe
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16549
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu767Phe
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

17-4084622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084622
    reference: chr 17
allele count: 2
allele frequency: 1.657247974014352e-5
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.164G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1841G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2167G>A
  hgvsp: ENSP00000343362.4:p.Gly723Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2293G>A
  hgvsp: ENSP00000459943.1:p.Gly765Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5879C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2170G>A
  hgvsp: ENSP00000459775.1:p.Gly724Arg
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly765Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-4084632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084632
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084632
    reference: chr 17
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2160G>A
  hgvsp: ENST00000574367.1:c.2160G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.154G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1831G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2283G>A
  hgvsp: ENST00000570535.1:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2157G>A
  hgvsp: ENST00000341657.4:c.2157G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5869C>T
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro761Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-4084633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084633
    reference: chr 17
allele count: 3
allele frequency: 2.48616037391852e-5
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5868G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2156C>T
  hgvsp: ENSP00000343362.4:p.Pro719Leu
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.153C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2159C>T
  hgvsp: ENSP00000459775.1:p.Pro720Leu
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2282C>T
  hgvsp: ENSP00000459943.1:p.Pro761Leu
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1830C>T
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16553
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro761Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

17-4084644-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084644
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084644
    reference: chr 17
allele count: 9
allele frequency: 7.459717525363039e-5
allele num: 120648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2148A>C
  hgvsp: ENST00000574367.1:c.2148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5857T>G
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2271A>C
  hgvsp: ENST00000570535.1:c.2271A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1819A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.142A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2145A>C
  hgvsp: ENST00000341657.4:c.2145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16562
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr757Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

17-4084647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084647
    reference: chr 17
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.139C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2142C>T
  hgvsp: ENST00000341657.4:c.2142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5854G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1816C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2145C>T
  hgvsp: ENST00000574367.1:c.2145C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2268C>T
  hgvsp: ENST00000570535.1:c.2268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala756Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-4084651-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084650
    reference: chr 17
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1811delG
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5849delC
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2140delG
  hgvsp: ENSP00000459775.1:p.Asp714MetfsTer39
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2137delG
  hgvsp: ENSP00000343362.4:p.Asp713MetfsTer39
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2263delG
  hgvsp: ENSP00000459943.1:p.Asp755MetfsTer39
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.134delG
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16561
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp755MetfsTer39
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: TC
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-4084652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084652
    reference: chr 17
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5849C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1811G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2140G>A
  hgvsp: ENSP00000459775.1:p.Asp714Asn
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.134G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2137G>A
  hgvsp: ENSP00000343362.4:p.Asp713Asn
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2263G>A
  hgvsp: ENSP00000459943.1:p.Asp755Asn
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp755Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-4084660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084660
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084660
    reference: chr 17
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5841T>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2132A>G
  hgvsp: ENSP00000459775.1:p.His711Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2129A>G
  hgvsp: ENSP00000343362.4:p.His710Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1803A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2255A>G
  hgvsp: ENSP00000459943.1:p.His752Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.126A>G
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18064
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His752Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-4084679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084679
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084679
    reference: chr 17
allele count: 1
allele frequency: 8.30675172780436e-6
allele num: 120384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2122-12G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.119-12G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2248-12G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5822C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2125-12G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1796-12G>A
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-4084681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084681
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084681
    reference: chr 17
allele count: 2
allele frequency: 1.661543573980228e-5
allele num: 120370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2122-14A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1796-14A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2248-14A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5820T>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2125-14A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.119-14A>G
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

17-4084683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084683
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084683
    reference: chr 17
allele count: 2
allele frequency: 1.661819692563357e-5
allele num: 120350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2122-16C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2248-16C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1796-16C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5818G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2125-16C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.119-16C>T
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

17-4084684-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084684
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084684
    reference: chr 17
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.119-17C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2248-17C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1796-17C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2122-17C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2125-17C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5817G>C
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
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: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-4084702-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084702
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084702
    reference: chr 17
allele count: 10
allele frequency: 8.317806760713335e-5
allele num: 120224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5799T>G
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1796-35A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2125-35A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.119-35A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2122-35A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2248-35A>C
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-4084709-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084709
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084709
    reference: chr 17
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5792A>G
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2125-42T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.119-42T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2248-42T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1796-42T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2122-42T>C
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

17-4084718-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4084718
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4084718
    reference: chr 17
allele count: 2
allele frequency: 1.666611112962901e-5
allele num: 120004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2122-51C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.119-51C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2248-51C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2125-51C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1796-51C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5783G>C
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10668
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16581
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-4085433-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085433
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085433
    reference: chr 17
allele count: 6
allele frequency: 5.44375691810775e-5
allele num: 110218
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2247+43A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1795+43A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.118+43A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2121+43A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2124+43A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5068T>C
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-4085439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085439
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085439
    reference: chr 17
allele count: 1
allele frequency: 9.066347531233567e-6
allele num: 110298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2124+37G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2247+37G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5062C>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.118+37G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2121+37G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1795+37G>A
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/17-4085457-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085457
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085457
    reference: chr 17
allele count: 1
allele frequency: 9.031955056991637e-6
allele num: 110718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1795+19T>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.118+19T>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5044A>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2121+19T>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2247+19T>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2124+19T>G
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34346
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-4085457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085457
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085457
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 110718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.118+19T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2124+19T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2247+19T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1795+19T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2121+19T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5044A>G
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34346
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-4085479-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085479
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085479
    reference: chr 17
allele count: 1
allele frequency: 8.880363739698778e-6
allele num: 112608
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2244T>C
  hgvsp: ENST00000570535.1:c.2244T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2118T>C
  hgvsp: ENST00000341657.4:c.2118T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.115T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1792T>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2121T>C
  hgvsp: ENST00000574367.1:c.2121T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5022A>G
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr748Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-4085483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085483
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085483
    reference: chr 17
allele count: 1
allele frequency: 8.853945318033716e-6
allele num: 112944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1788C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.111C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2114C>T
  hgvsp: ENSP00000343362.4:p.Ser705Phe
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2240C>T
  hgvsp: ENSP00000459943.1:p.Ser747Phe
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2117C>T
  hgvsp: ENSP00000459775.1:p.Ser706Phe
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5018G>A
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser747Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-4085490-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085490
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085490
    reference: chr 17
allele count: 2
allele frequency: 1.754324409669836e-5
allele num: 114004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2110A>G
  hgvsp: ENSP00000459775.1:p.Ile704Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2233A>G
  hgvsp: ENSP00000459943.1:p.Ile745Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.104A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1781A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2107A>G
  hgvsp: ENSP00000343362.4:p.Ile703Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5011T>C
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34343
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile745Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-4085499-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085499
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085499
    reference: chr 17
allele count: 4
allele frequency: 3.462304163420757e-5
allele num: 115530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5002G>T
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2101C>A
  hgvsp: ENSP00000459775.1:p.Leu701Met
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2098C>A
  hgvsp: ENSP00000343362.4:p.Leu700Met
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2224C>A
  hgvsp: ENSP00000459943.1:p.Leu742Met
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1772C>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.95C>A
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6819
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu742Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-4085501-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085501
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085501
    reference: chr 17
allele count: 2
allele frequency: 1.727056060239715e-5
allele num: 115804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2099A>G
  hgvsp: ENSP00000459775.1:p.Asn700Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2096A>G
  hgvsp: ENSP00000343362.4:p.Asn699Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2222A>G
  hgvsp: ENSP00000459943.1:p.Asn741Ser
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1770A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.93A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-5000T>C
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34342
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn741Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

17-4085505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085505
    reference: chr 17
allele count: 2
allele frequency: 1.720548510865264e-5
allele num: 116242
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2218A>G
  hgvsp: ENSP00000459943.1:p.Asn740Asp
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2092A>G
  hgvsp: ENSP00000343362.4:p.Asn698Asp
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.89A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1766A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4996T>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2095A>G
  hgvsp: ENSP00000459775.1:p.Asn699Asp
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34342
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asn740Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-4085505-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085505
    reference: chr 17
allele count: 1
allele frequency: 8.602742554326319e-6
allele num: 116242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2095A>C
  hgvsp: ENSP00000459775.1:p.Asn699His
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4996T>G
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2092A>C
  hgvsp: ENSP00000343362.4:p.Asn698His
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2218A>C
  hgvsp: ENSP00000459943.1:p.Asn740His
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1766A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.89A>C
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn740His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

17-4085506-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085506
    reference: chr 17
allele count: 1
allele frequency: 8.594757198109153e-6
allele num: 116350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2094A>C
  hgvsp: ENST00000574367.1:c.2094A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1765A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.88A>C
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2091A>C
  hgvsp: ENST00000341657.4:c.2091A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4995T>G
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2217A>C
  hgvsp: ENST00000570535.1:c.2217A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala739Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

17-4085525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085525
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085525
    reference: chr 17
allele count: 18
allele frequency: 1.50847258770092e-4
allele num: 119326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2072C>T
  hgvsp: ENSP00000343362.4:p.Pro691Leu
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2075C>T
  hgvsp: ENSP00000459775.1:p.Pro692Leu
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1746C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.69C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2198C>T
  hgvsp: ENSP00000459943.1:p.Pro733Leu
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4976G>A
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro733Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

17-4085527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085527
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085527
    reference: chr 17
allele count: 3
allele frequency: 2.509158428263161e-5
allele num: 119562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2073C>T
  hgvsp: ENST00000574367.1:c.2073C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4974G>A
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1744C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2070C>T
  hgvsp: ENST00000341657.4:c.2070C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.67C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2196C>T
  hgvsp: ENST00000570535.1:c.2196C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34341
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro732Pro
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-4085528-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085528
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085528
    reference: chr 17
allele count: 9
allele frequency: 7.525083612040134e-5
allele num: 119600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2069C>T
  hgvsp: ENSP00000343362.4:p.Pro690Leu
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2195C>T
  hgvsp: ENSP00000459943.1:p.Pro732Leu
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.66C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2072C>T
  hgvsp: ENSP00000459775.1:p.Pro691Leu
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1743C>T
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4973G>A
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro732Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-4085528-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085528
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085528
    reference: chr 17
allele count: 1
allele frequency: 8.361204013377926e-6
allele num: 119600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2069C>G
  hgvsp: ENSP00000343362.4:p.Pro690Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2072C>G
  hgvsp: ENSP00000459775.1:p.Pro691Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4973G>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1743C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.66C>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2195C>G
  hgvsp: ENSP00000459943.1:p.Pro732Arg
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34342
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro732Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS

17-4085535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085535
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085535
    reference: chr 17
allele count: 3
allele frequency: 2.499916669444352e-5
allele num: 120004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2065G>A
  hgvsp: ENSP00000459775.1:p.Gly689Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2062G>A
  hgvsp: ENSP00000343362.4:p.Gly688Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.59G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1736G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2188G>A
  hgvsp: ENSP00000459943.1:p.Gly730Arg
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4966C>T
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34339
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly730Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-4085548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085548
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085548
    reference: chr 17
allele count: 2
allele frequency: 1.661515967168445e-5
allele num: 120372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2175G>A
  hgvsp: ENST00000570535.1:c.2175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1723G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.46G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2052G>A
  hgvsp: ENST00000574367.1:c.2052G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2049G>A
  hgvsp: ENST00000341657.4:c.2049G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4953C>T
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34335
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val725Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

17-4085556-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085556
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085556
    reference: chr 17
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1715A>G
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4945T>C
  variant of: http://identifiers.org/hgnc/28471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2044A>G
  hgvsp: ENSP00000459775.1:p.Met682Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2167A>G
  hgvsp: ENSP00000459943.1:p.Met723Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2041A>G
  hgvsp: ENSP00000343362.4:p.Met681Val
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.38A>G
  variant of: http://identifiers.org/hgnc/20763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met723Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-4085562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4085562
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4085562
    reference: chr 17
allele count: 2
allele frequency: 1.659999004000598e-5
allele num: 120482
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459943
  ensembl transcript: ENST00000570535
  gene symbol: ANKFY1
  hgvsc: ENST00000570535.1:c.2161G>A
  hgvsp: ENSP00000459943.1:p.Ala721Thr
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000460619
  ensembl transcript: ENST00000572412
  gene symbol: ANKFY1
  hgvsc: ENST00000572412.1:c.*1709G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000459775
  ensembl transcript: ENST00000574367
  gene symbol: ANKFY1
  hgvsc: ENST00000574367.1:c.2038G>A
  hgvsp: ENSP00000459775.1:p.Ala680Thr
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185722
  ensembl protein: ENSP00000343362
  ensembl transcript: ENST00000341657
  gene symbol: ANKFY1
  hgvsc: ENST00000341657.4:c.2035G>A
  hgvsp: ENSP00000343362.4:p.Ala679Thr
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185722
  ensembl transcript: ENST00000571547
  gene symbol: ANKFY1
  hgvsc: ENST00000571547.1:n.32G>A
  variant of: http://identifiers.org/hgnc/20763
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167740
  ensembl protein: ENSP00000461090
  ensembl transcript: ENST00000573984
  gene symbol: CYB5D2
  hgvsc: ENST00000573984.1:c.243-4939C>T
  variant of: http://identifiers.org/hgnc/28471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala721Thr
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50440
bin: 9.75e1
variant carriers: 91

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

GenotypeQuality
all individuals: 378
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.065603923973023e-4
allele num: 9786
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 77
allele frequency: 1.156225599135083e-3
allele num: 66596
num of homozygotes: 0

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

Latino
type: Population
allele count: 9
allele frequency: 7.776049766718507e-4
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

DP
type: SiteQuality
SIO_000300: 5.934663e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.266e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50417
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.639294827186268e-4
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 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: 9786
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

DP
type: SiteQuality
SIO_000300: 5.927169e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50426
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.505992970650966e-4
allele num: 66578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.007e0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

DP
type: SiteQuality
SIO_000300: 5.924538e6

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
all individuals: 594
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.046e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.607e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 4.872e0

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.25e-1

DP
type: SiteQuality
SIO_000300: 5.916487e6

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511956685215822e-5
allele num: 66490
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e0

FS
type: SiteQuality
SIO_000300: 1.498e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.428e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

DP
type: SiteQuality
SIO_000300: 5.915041e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

GenotypeQuality
all individuals: 847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.015942246954429e-5
allele num: 66490
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.915041e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.498e0

QD
type: SiteQuality
SIO_000300: 1.428e1

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 10

GenotypeQuality
all individuals: 835
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1850
bin: 6.25e1
variant carriers: 17

GenotypeQuality
all individuals: 344
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 52131
bin: 9.75e1
variant carriers: 10277

GenotypeQuality
all individuals: 809
bin: 4.75e1
variant carriers: 11

GenotypeQuality
all individuals: 454
bin: 2.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 479
allele frequency: 7.246596066565809e-2
allele num: 6610
num of homozygotes: 19

South Asian
type: Population
allele count: 2541
allele frequency: 1.55279882669274e-1
allele num: 16364
num of homozygotes: 222

European (Non-Finnish)
type: Population
allele count: 5118
allele frequency: 7.699482488867493e-2
allele num: 66472
num of homozygotes: 188

East Asian
type: Population
allele count: 485
allele frequency: 5.636913063691306e-2
allele num: 8604
num of homozygotes: 16

Latino
type: Population
allele count: 1936
allele frequency: 1.674161189899689e-1
allele num: 11564
num of homozygotes: 172

Other
type: Population
allele count: 79
allele frequency: 8.856502242152467e-2
allele num: 892
num of homozygotes: 5

African
type: Population
allele count: 407
allele frequency: 4.16837361736993e-2
allele num: 9764
num of homozygotes: 7

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.02e0

DP
type: SiteQuality
SIO_000300: 5.907548e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.966e0

QD
type: SiteQuality
SIO_000300: 1.558e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 930
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.753e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

FS
type: SiteQuality
SIO_000300: 7.068e0

DP
type: SiteQuality
SIO_000300: 5.851043e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

QD
type: SiteQuality
SIO_000300: 1.66e1

GenotypeQuality
all individuals: 831
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019563581640331e-5
allele num: 66450
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.85125e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.582e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.423e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

GenotypeQuality
all individuals: 4288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16141
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.753155680224404e-3
allele num: 8556
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 1.03e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.129e0

FS
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.879784e6

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

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 505
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4341
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508750754375377e-5
allele num: 66280
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.083e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.457e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.896231e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.672e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 1108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 35
allele frequency: 3.611971104231166e-3
allele num: 9690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 1.086464463558171e-3
allele num: 66270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.519756838905775e-4
allele num: 6580
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.613703897919944e-4
allele num: 11442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.438e1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

DP
type: SiteQuality
SIO_000300: 1.900861e6

FS
type: SiteQuality
SIO_000300: 6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 790
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3911
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4386
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.476e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.907878e6

VQSLOD
type: SiteQuality
SIO_000300: -1.817e0

MQRankSum
type: SiteQuality
SIO_000300: -1.883e0

QD
type: SiteQuality
SIO_000300: 9.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

GenotypeQuality
all individuals: 3350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

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

African
type: Population
allele count: 10
allele frequency: 1.031140441328109e-3
allele num: 9698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

DP
type: SiteQuality
SIO_000300: 1.914729e6

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

GenotypeQuality
all individuals: 3425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16202
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.924886e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.84e0

VQSLOD
type: SiteQuality
SIO_000300: -5.546e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 4.434e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

DP
type: SiteQuality
SIO_000300: 1.926476e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

GenotypeQuality
all individuals: 2184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.572e0

QD
type: SiteQuality
SIO_000300: 1.538e1

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

FS
type: SiteQuality
SIO_000300: 8.268000000000001e0

DP
type: SiteQuality
SIO_000300: 1.929715e6

MQ
type: SiteQuality
SIO_000300: 6.063e1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 292
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6722
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 378
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

DP
type: SiteQuality
SIO_000300: 1.935444e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.86e-1

FS
type: SiteQuality
SIO_000300: 5.489e0

MQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 500
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.118453255017132e-5
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.732e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.219e0

QD
type: SiteQuality
SIO_000300: 5.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.354e0

MQRankSum
type: SiteQuality
SIO_000300: -1.112e0

DP
type: SiteQuality
SIO_000300: 1.937444e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

GenotypeQuality
all individuals: 262
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4635
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3519
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.987e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

DP
type: SiteQuality
SIO_000300: 1.939408e6

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

QD
type: SiteQuality
SIO_000300: 1.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6855
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.493246390312063e-4
allele num: 8588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

DP
type: SiteQuality
SIO_000300: 1.946788e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 1.521e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

QD
type: SiteQuality
SIO_000300: 1.378e1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16234
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2216
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.025220422390814e-4
allele num: 9754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.947983e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

GenotypeQuality
all individuals: 3590
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17926
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.951281e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

QD
type: SiteQuality
SIO_000300: 1.188e1

FS
type: SiteQuality
SIO_000300: 3.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 6.068e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

GenotypeQuality
all individuals: 197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16240
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.952144e6

FS
type: SiteQuality
SIO_000300: 1.189e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

QD
type: SiteQuality
SIO_000300: 1.24e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeQuality
all individuals: 17963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16243
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.825e0

QD
type: SiteQuality
SIO_000300: 8.83e0

FS
type: SiteQuality
SIO_000300: 4.204e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.954073e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.255e0

MQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

MQ
type: SiteQuality
SIO_000300: 5.86e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16250
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.955377e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.78e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.029e0

QD
type: SiteQuality
SIO_000300: 1.023e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16248
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3622
bin: 7.25e1
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: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.631e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 1.336e0

DP
type: SiteQuality
SIO_000300: 1.956388e6

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 274
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.074e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.189e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 1.1203e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

DP
type: SiteQuality
SIO_000300: 1.957748e6

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7032
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.108e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 6.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.953e0

DP
type: SiteQuality
SIO_000300: 1.95918e6

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3646
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 7.216e0

DP
type: SiteQuality
SIO_000300: 1.960584e6

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.828e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

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

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 2.938e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.961641e6

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
all individuals: 4833
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3662
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.961641e6

FS
type: SiteQuality
SIO_000300: 2.938e0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.274e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3661
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.066857493355142e-4
allele num: 9782
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
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: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.216e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 1.962814e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

GenotypeQuality
all individuals: 3017
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18227
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.96e1

VQSLOD
type: SiteQuality
SIO_000300: -7.869e-1

DP
type: SiteQuality
SIO_000300: 1.963142e6

MQ
type: SiteQuality
SIO_000300: 5.918e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

GenotypeQuality
all individuals: 16285
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4886
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4252
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.803156917363045e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
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: 16452
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.966701e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

GenotypeQuality
all individuals: 3682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16723
bin: 9.75e1
variant carriers: 692

African
type: Population
allele count: 3
allele frequency: 3.063725490196078e-4
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 38
allele frequency: 2.306665047954352e-3
allele num: 16474
num of homozygotes: 0

East Asian
type: Population
allele count: 661
allele frequency: 7.677119628339141e-2
allele num: 8610
num of homozygotes: 35

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.448379261746979e-4
allele num: 66698
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.681e0

DP
type: SiteQuality
SIO_000300: 1.995349e6

QD
type: SiteQuality
SIO_000300: 1.341e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

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

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

FS
type: SiteQuality
SIO_000300: 1.778e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

DP
type: SiteQuality
SIO_000300: 1.981449e6

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3707
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3015
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
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: 896
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

FS
type: SiteQuality
SIO_000300: 1.349e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

DP
type: SiteQuality
SIO_000300: 1.981972e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -2.153e-1

GenotypeQuality
all individuals: 4217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16551
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.476e0

MQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

DP
type: SiteQuality
SIO_000300: 1.982278e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.313e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
all individuals: 3017
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18195
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0259e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.982327e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.321e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4898
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7185
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18239
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.982404e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

FS
type: SiteQuality
SIO_000300: 3.086e0

QD
type: SiteQuality
SIO_000300: 1.227e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

GenotypeQuality
all individuals: 4209
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7185
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 9.202453987730061e-4
allele num: 9780
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.172e1

DP
type: SiteQuality
SIO_000300: 1.982156e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 3.283e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

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

GenotypeQuality
all individuals: 3015
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16560
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4898
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.887e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 8.391999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

DP
type: SiteQuality
SIO_000300: 1.981701e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.199e0

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 7153
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 3.448e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.348e0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.462e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQ
type: SiteQuality
SIO_000300: 6.037e1

DP
type: SiteQuality
SIO_000300: 1.980976e6

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3014
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16560
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4896
bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.739e0

FS
type: SiteQuality
SIO_000300: 2.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

DP
type: SiteQuality
SIO_000300: 1.980745e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7121
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.494e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

FS
type: SiteQuality
SIO_000300: 1.4858e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.264e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 1.978805e6

GenotypeQuality
all individuals: 4192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3646
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16573
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

FS
type: SiteQuality
SIO_000300: 1.388e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.969e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

DP
type: SiteQuality
SIO_000300: 1.972283e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 4865
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16572
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2238
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027749229188078e-4
allele num: 9730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

QD
type: SiteQuality
SIO_000300: 1.492e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.971304e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 1.147e0

GenotypeQuality
all individuals: 16573
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4860
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.325040688212044e-4
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.253e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 1.970478e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16572
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7036
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.547e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.969762e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.501e0

QD
type: SiteQuality
SIO_000300: 1.776e1

GenotypeQuality
all individuals: 3591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16578
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 697
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.163873370577281e-3
allele num: 8592
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

DP
type: SiteQuality
SIO_000300: 1.954049e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.184e1

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16577
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3005
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.029e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 1.592e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.353e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

FS
type: SiteQuality
SIO_000300: 1.229e0

DP
type: SiteQuality
SIO_000300: 1.946672e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

GenotypeQuality
all individuals: 2247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4852
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4198
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.330459100442787e-4
allele num: 8582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

DP
type: SiteQuality
SIO_000300: 1.943324e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 5.941e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

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

GenotypeQuality
all individuals: 768
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34350
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2743
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3496
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64014
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.058823529411765e-4
allele num: 8500
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: 11484
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.22e0

FS
type: SiteQuality
SIO_000300: 2.883e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.632353e6

GenotypeQuality
all individuals: 2743
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34345
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561767921286897e-5
allele num: 64030
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.591e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 2.634743e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

European (Finnish)
type: Population
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: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559235350983878e-5
allele num: 64134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.64522e6

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 3.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

GenotypeQuality
all individuals: 3125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64134
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 3.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

DP
type: SiteQuality
SIO_000300: 2.64522e6

GenotypeQuality
all individuals: 307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34344
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548227279764669e-5
allele num: 64590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 5.237e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.42e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.660776e6

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34344
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
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: 11118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.663119e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.617e0

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 1.533e0

QD
type: SiteQuality
SIO_000300: 1.232e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.6e-1

GenotypeQuality
all individuals: 1851
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.07938658619203e-5
allele num: 64948
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.242e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 2.671078e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 6.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

GenotypeQuality
all individuals: 2554
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34344
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.124636349716736e-5
allele num: 65310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.683212e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 6.132e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 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: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.058197498394446e-5
allele num: 65398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.685358e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 1.172e0

QD
type: SiteQuality
SIO_000300: 1.534e1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 1852
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7200
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13406
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Finnish)
type: Population
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: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.053155436143254e-5
allele num: 65506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

FS
type: SiteQuality
SIO_000300: 4.439e0

DP
type: SiteQuality
SIO_000300: 2.689614e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

GenotypeQuality
all individuals: 7200
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34342
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526577718071627e-5
allele num: 65506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 2.689614e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 4.439e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34342
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65532
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
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: 850
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.917e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

DP
type: SiteQuality
SIO_000300: 2.690394e6

FS
type: SiteQuality
SIO_000300: 7.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34348
bin: 9.75e1
variant carriers: 19

South Asian
type: Population
allele count: 16
allele frequency: 1.028542041655953e-3
allele num: 15556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
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: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 2.554e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 2.724015e6

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
all individuals: 3130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9334
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.483511379470506e-4
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.715e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e0

DP
type: SiteQuality
SIO_000300: 2.724798e6

QD
type: SiteQuality
SIO_000300: 1.252e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34342
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.173273395995096e-4
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.333e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

DP
type: SiteQuality
SIO_000300: 2.725966e6

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15746
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
type: Population
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: 892
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.725966e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.333e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

QD
type: SiteQuality
SIO_000300: 1.308e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2773
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.483511379470506e-4
allele num: 8612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
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: 11572
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

DP
type: SiteQuality
SIO_000300: 2.729918e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.11e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
all individuals: 217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2935
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 16304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

DP
type: SiteQuality
SIO_000300: 2.733889e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 6.563e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.253e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.928e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34335
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

QD
type: SiteQuality
SIO_000300: 9.73e0

VQSLOD
type: SiteQuality
SIO_000300: -1.278e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e0

DP
type: SiteQuality
SIO_000300: 2.734396e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.647e0