21-45745171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745171
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745171
    reference: chr 21
allele count: 2
allele frequency: 1.849967625566553e-5
allele num: 108110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.1582G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2130+24G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.4467G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1989+24G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000495274
  gene symbol: PFKL
  hgvsc: ENST00000495274.1:n.604G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1950+24G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2338+24G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.4889+24G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1079+24G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15698
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

21-45745175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745175
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745175
    reference: chr 21
allele count: 2
allele frequency: 1.864176127360513e-5
allele num: 107286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1950+28G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.4471G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1989+28G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2130+28G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000495274
  gene symbol: PFKL
  hgvsc: ENST00000495274.1:n.608G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1079+28G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2338+28G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.1586G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.4889+28G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

21-45745182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745182
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745182
    reference: chr 21
allele count: 3
allele frequency: 2.869220910881998e-5
allele num: 104558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000495274
  gene symbol: PFKL
  hgvsc: ENST00000495274.1:n.615C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1989+35C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1079+35C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.4478C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.1593C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1950+35C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2130+35C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.4889+35C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2338+35C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7927
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/21-45745183-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745183
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745183
    reference: chr 21
allele count: 1
allele frequency: 9.619454384547309e-6
allele num: 103956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000495274
  gene symbol: PFKL
  hgvsc: ENST00000495274.1:n.616C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.4889+36C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1989+36C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2130+36C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1079+36C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2338+36C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1950+36C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.1594C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.4479C>A
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

21-45745183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745183
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745183
    reference: chr 21
allele count: 1
allele frequency: 9.619454384547309e-6
allele num: 103956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.4479C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1989+36C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2130+36C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000495274
  gene symbol: PFKL
  hgvsc: ENST00000495274.1:n.616C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2338+36C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.4889+36C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1950+36C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.1594C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1079+36C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19205
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

21-45745185-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745185
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745185
    reference: chr 21
allele count: 1
allele frequency: 9.690298073568742e-6
allele num: 103196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000495274
  gene symbol: PFKL
  hgvsc: ENST00000495274.1:n.618T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.1596T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1079+38T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2338+38T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.4481T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.4889+38T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2130+38T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1989+38T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1950+38T>C
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8356
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

21-45745186-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745186
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745187
    reference: chr 21
allele count: 9
allele frequency: 8.775008775008775e-5
allele num: 102564
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1950+42dupT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2130+42dupT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.4485dupT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1079+42dupT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000495274
  gene symbol: PFKL
  hgvsc: ENST00000495274.1:n.622dupT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1989+42dupT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.1600dupT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2338+42dupT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.4889+42dupT
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18954
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/21-45745191-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745191
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745191
    reference: chr 21
allele count: 1
allele frequency: 1.013356032508462e-5
allele num: 98682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000495274
  gene symbol: PFKL
  hgvsc: ENST00000495274.1:n.624C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.1602C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1989+44C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2130+44C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2338+44C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1950+44C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.4487C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1079+44C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.4889+44C>A
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13608
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

21-45745195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745195
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745195
    reference: chr 21
allele count: 4
allele frequency: 4.088474590130423e-5
allele num: 97836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.4889+48C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.1606C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.4491C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2130+48C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000495274
  gene symbol: PFKL
  hgvsc: ENST00000495274.1:n.628C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1079+48C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1989+48C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2338+48C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1950+48C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17652
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

21-45745793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745793
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745793
    reference: chr 21
allele count: 1
allele frequency: 1.282281435129382e-5
allele num: 77986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-51G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-51G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5089G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-51G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-51G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2204G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-51G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5068G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8868
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

21-45745798-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745798
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745798
    reference: chr 21
allele count: 1
allele frequency: 1.282478774976274e-5
allele num: 77974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5073A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-46A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-46A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-46A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-46A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-46A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2209A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5094A>G
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

21-45745802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745802
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745802
    reference: chr 21
allele count: 12
allele frequency: 1.519949335022166e-4
allele num: 78950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-42A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-42A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-42A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-42A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2213A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-42A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5098A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5077A>G
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17732
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21238
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8827
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6166
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

21-45745803-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745803
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745802
    reference: chr 21
allele count: 1
allele frequency: 1.273074474856779e-5
allele num: 78550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5081delC
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2217delC
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-38delC
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-38delC
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-38delC
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5102delC
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-38delC
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-38delC
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17691
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: GC
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

21-45745810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745810
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745810
    reference: chr 21
allele count: 2
allele frequency: 2.483484825907714e-5
allele num: 80532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-34G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-34G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5106G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2221G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-34G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-34G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-34G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5085G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

21-45745818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745818
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745818
    reference: chr 21
allele count: 12
allele frequency: 1.445225936988149e-4
allele num: 83032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5093G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-26G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-26G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5114G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2229G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-26G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-26G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-26G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16990
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18174
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13146
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  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: G
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

21-45745820-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745820
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745821
    reference: chr 21
allele count: 5
allele frequency: 5.958907374743767e-5
allele num: 83908
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-22dupA
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-22dupA
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2233dupA
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-22dupA
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-22dupA
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-22dupA
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5118dupA
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5097dupA
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17307
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16419
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-45745824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745824
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745824
    reference: chr 21
allele count: 4
allele frequency: 4.690651531497725e-5
allele num: 85276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5099C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2235C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5120C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

21-45745825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745825
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745825
    reference: chr 21
allele count: 4
allele frequency: 4.614994115882502e-5
allele num: 86674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-19G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-19G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5100G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5121G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-19G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2236G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-19G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-19G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14363
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19079
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-45745827-GCCTCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745827
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745822
    reference: chr 21
allele count: 1
allele frequency: 1.128107937367447e-5
allele num: 88644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1951-13_1951-9delCACCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1990-13_1990-9delCACCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2339-13_*2339-9delCACCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1080-13_1080-9delCACCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2242_2246delCACCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5106_5110delCACCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5127_5131delCACCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2131-13_2131-9delCACCT
  variant of: http://identifiers.org/hgnc/8876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: GCCTCA
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

21-45745845-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745845
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745845
    reference: chr 21
allele count: 7
allele frequency: 6.756104623105878e-5
allele num: 103610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2132G>T
  hgvsp: ENSP00000384038.1:p.Gly711Val
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2340G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1081G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1991G>T
  hgvsp: ENSP00000269848.6:p.Gly664Val
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5141G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1952G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2256G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5120G>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34703
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly664Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

21-45745849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745849
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745849
    reference: chr 21
allele count: 3
allele frequency: 2.838651073010106e-5
allele num: 105684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1085C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5124C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2260C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5145C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2344C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2136C>T
  hgvsp: ENST00000403390.1:c.2136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1995C>T
  hgvsp: ENST00000349048.4:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1956C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35810
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly665Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

21-45745850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745850
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745850
    reference: chr 21
allele count: 5
allele frequency: 4.660092829049155e-5
allele num: 107294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1957G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2261G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1996G>A
  hgvsp: ENSP00000269848.6:p.Ala666Thr
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5146G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5125G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2137G>A
  hgvsp: ENSP00000384038.1:p.Ala713Thr
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2345G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1086G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala666Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

21-45745852-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745852
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745852
    reference: chr 21
allele count: 3
allele frequency: 2.749115701116141e-5
allele num: 109126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2347T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5148T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1088T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1959T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.1998T>A
  hgvsp: ENST00000349048.4:c.1998T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2139T>A
  hgvsp: ENST00000403390.1:c.2139T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2263T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5127T>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala666Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

21-45745888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745888
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745888
    reference: chr 21
allele count: 3
allele frequency: 2.552322613578356e-5
allele num: 117540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5163G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2175G>A
  hgvsp: ENST00000403390.1:c.2175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2299G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2034G>A
  hgvsp: ENST00000349048.4:c.2034G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2383G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1124G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.1995G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5184G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42320
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu678Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

21-45745897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745897
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745897
    reference: chr 21
allele count: 1
allele frequency: 8.490838385382172e-6
allele num: 117774
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2043G>A
  hgvsp: ENST00000349048.4:c.2043G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2308G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2392G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1133G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2184G>A
  hgvsp: ENST00000403390.1:c.2184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5172G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5193G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2004G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51345
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys681Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

21-45745898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745898
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745898
    reference: chr 21
allele count: 1
allele frequency: 8.493723138600575e-6
allele num: 117734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5173G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2185G>A
  hgvsp: ENSP00000384038.1:p.Ala729Thr
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2005G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2044G>A
  hgvsp: ENSP00000269848.6:p.Ala682Thr
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2309G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2393G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5194G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1134G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41829
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala682Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

21-45745911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745911
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745911
    reference: chr 21
allele count: 1
allele frequency: 8.508321138073035e-6
allele num: 117532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1147T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2406T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2198T>C
  hgvsp: ENSP00000384038.1:p.Leu733Ser
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5207T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2018T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2057T>C
  hgvsp: ENSP00000269848.6:p.Leu686Ser
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2322T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5186T>C
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu686Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

21-45745912-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745912
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745912
    reference: chr 21
allele count: 1
allele frequency: 8.511652452207071e-6
allele num: 117486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2019G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5208G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2199G>T
  hgvsp: ENSP00000384038.1:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2407G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1148G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2058G>T
  hgvsp: ENSP00000269848.6:p.Leu686Phe
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2323G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5187G>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu686Phe
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

21-45745914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745914
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745914
    reference: chr 21
allele count: 1
allele frequency: 8.514841368505305e-6
allele num: 117442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2021C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5210C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2325C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5189C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2060C>T
  hgvsp: ENSP00000269848.6:p.Ser687Leu
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1150C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2201C>T
  hgvsp: ENSP00000384038.1:p.Ser734Leu
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2409C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser687Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-45745917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745917
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745917
    reference: chr 21
allele count: 7
allele frequency: 5.974531426035301e-5
allele num: 117164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5192A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2063A>G
  hgvsp: ENSP00000269848.6:p.Glu688Gly
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2412A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2024A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2204A>G
  hgvsp: ENSP00000384038.1:p.Glu735Gly
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5213A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1153A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2328A>G
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40069
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu688Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

21-45745924-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745924
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745924
    reference: chr 21
allele count: 3
allele frequency: 2.572457554450351e-5
allele num: 116620
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2070G>T
  hgvsp: ENST00000349048.4:c.2070G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2419G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5199G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1160G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2031G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2211G>T
  hgvsp: ENST00000403390.1:c.2211G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5220G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2335G>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48343
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu690Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

21-45745925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745925
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745925
    reference: chr 21
allele count: 12
allele frequency: 1.030078285949732e-4
allele num: 116496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2336C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2420C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2212C>T
  hgvsp: ENSP00000384038.1:p.Arg738Cys
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2032C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2071C>T
  hgvsp: ENSP00000269848.6:p.Arg691Cys
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5200C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5221C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1161C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38509
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg691Cys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

21-45745926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745926
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745926
    reference: chr 21
allele count: 5
allele frequency: 4.293762022533663e-5
allele num: 116448
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2072G>A
  hgvsp: ENSP00000269848.6:p.Arg691His
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1162G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2213G>A
  hgvsp: ENSP00000384038.1:p.Arg738His
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2421G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5201G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2337G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5222G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2033G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg691His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

21-45745928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745928
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745928
    reference: chr 21
allele count: 4
allele frequency: 3.442992649210694e-5
allele num: 116178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2215G>A
  hgvsp: ENSP00000384038.1:p.Glu739Lys
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5203G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2423G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2074G>A
  hgvsp: ENSP00000269848.6:p.Glu692Lys
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5224G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2339G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2035G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1164G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu692Lys
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: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

21-45745930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745930
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745930
    reference: chr 21
allele count: 8
allele frequency: 6.892748828232699e-5
allele num: 116064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5205G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2217G>A
  hgvsp: ENST00000403390.1:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1166G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2425G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2076G>A
  hgvsp: ENST00000349048.4:c.2076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5226G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2037G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2341G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu692Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

21-45745930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745930
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745930
    reference: chr 21
allele count: 1
allele frequency: 8.615936035290874e-6
allele num: 116064
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2076G>C
  hgvsp: ENSP00000269848.6:p.Glu692Asp
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2037G>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5226G>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2217G>C
  hgvsp: ENSP00000384038.1:p.Glu739Asp
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1166G>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2341G>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5205G>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2425G>C
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu692Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

21-45745931-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745931
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745931
    reference: chr 21
allele count: 11
allele frequency: 9.487011418911927e-5
allele num: 115948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2426G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2218G>T
  hgvsp: ENSP00000384038.1:p.Val740Phe
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1167G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5206G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2342G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5227G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2038G>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2077G>T
  hgvsp: ENSP00000269848.6:p.Val693Phe
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 46517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val693Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

21-45745937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745937
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745937
    reference: chr 21
allele count: 1
allele frequency: 8.698526469616046e-6
allele num: 114962
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2083C>T
  hgvsp: ENSP00000269848.6:p.Arg695Cys
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1173C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5212C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2044C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2432C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2348C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2224C>T
  hgvsp: ENSP00000384038.1:p.Arg742Cys
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5233C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg695Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

21-45745938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745938
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745938
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 114688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1174G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5213G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2433G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2045G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2225G>A
  hgvsp: ENSP00000384038.1:p.Arg742His
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2349G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2084G>A
  hgvsp: ENSP00000269848.6:p.Arg695His
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5234G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33758
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg695His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

21-45745940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745940
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745940
    reference: chr 21
allele count: 141
allele frequency: 1.229529639512374e-3
allele num: 114678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5215A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2086A>G
  hgvsp: ENSP00000269848.6:p.Lys696Glu
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2435A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1176A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2227A>G
  hgvsp: ENSP00000384038.1:p.Lys743Glu
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5236A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2047A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2351A>G
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33462
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.75e1
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys696Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

21-45745944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745944
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745944
    reference: chr 21
allele count: 1
allele frequency: 8.772699359592947e-6
allele num: 113990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+1G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+1G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+1G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+1G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+1G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+1G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+1G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+1G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6884
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2089+1G>A
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

21-45745956-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745956
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745956
    reference: chr 21
allele count: 1
allele frequency: 8.967644737786067e-6
allele num: 111512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+13T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+13T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+13T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+13T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+13T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+13T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+13T>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+13T>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29441
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/21-45745958-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745958
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745958
    reference: chr 21
allele count: 1
allele frequency: 9.046335329557996e-6
allele num: 110542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+15C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+15C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+15C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+15C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+15C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+15C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+15C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+15C>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

21-45745958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745958
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745958
    reference: chr 21
allele count: 7
allele frequency: 6.332434730690598e-5
allele num: 110542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+15C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+15C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+15C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+15C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+15C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+15C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+15C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+15C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

21-45745959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745959
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745959
    reference: chr 21
allele count: 1
allele frequency: 9.035056017347308e-6
allele num: 110680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+16G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

21-45745963-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745963
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745963
    reference: chr 21
allele count: 1
allele frequency: 9.11843017106175e-6
allele num: 109668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+20C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+20C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+20C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+20C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+20C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+20C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+20C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+20C>G
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

21-45745963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745963
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745963
    reference: chr 21
allele count: 5
allele frequency: 4.559215085530875e-5
allele num: 109668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+20C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+20C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22105
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

21-45745964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745964
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745964
    reference: chr 21
allele count: 2
allele frequency: 1.825583730397795e-5
allele num: 109554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+21G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+21G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+21G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+21G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+21G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+21G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+21G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+21G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4912
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

21-45745972-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745972
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745972
    reference: chr 21
allele count: 1
allele frequency: 9.220158955540394e-6
allele num: 108458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+29A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+29A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+29A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+29A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+29A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+29A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+29A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+29A>G
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

21-45745975-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745975
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745975
    reference: chr 21
allele count: 1
allele frequency: 9.229860444510079e-6
allele num: 108344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+32T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+32T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+32T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+32T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+32T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+32T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+32T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+32T>C
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5767
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

21-45745976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745976
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745976
    reference: chr 21
allele count: 7
allele frequency: 6.491459094534192e-5
allele num: 107834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+33T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+33T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+33T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+33T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+33T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+33T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+33T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+33T>C
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17941
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

21-45745985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45745985
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45745985
    reference: chr 21
allele count: 11
allele frequency: 1.035957130210393e-4
allele num: 106182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5218+42C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2050+42C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2438+42C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1179+42C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2354+42C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2089+42C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5239+42C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2230+42C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15315
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16202
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12181
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12896
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

21-45746002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746002
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746002
    reference: chr 21
allele count: 1
allele frequency: 9.560412244976003e-6
allele num: 104598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-40G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-40G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-40G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-40G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-40G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-40G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-40G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-40G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/21-45746004-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746004
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746004
    reference: chr 21
allele count: 1
allele frequency: 9.584052137243626e-6
allele num: 104340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-38C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-38C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-38C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-38C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-38C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-38C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-38C>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-38C>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

21-45746005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746005
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746005
    reference: chr 21
allele count: 1
allele frequency: 9.578544061302682e-6
allele num: 104400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-37C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-37C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-37C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-37C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-37C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-37C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-37C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-37C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

21-45746008-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746008
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746008
    reference: chr 21
allele count: 1
allele frequency: 9.588463161124535e-6
allele num: 104292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-34A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-34A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-34A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-34A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-34A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-34A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-34A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-34A>G
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

21-45746012-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746012
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746012
    reference: chr 21
allele count: 1
allele frequency: 9.564435602655087e-6
allele num: 104554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-30T>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-30T>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-30T>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-30T>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-30T>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-30T>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-30T>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-30T>G
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

21-45746024-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746024
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746024
    reference: chr 21
allele count: 1
allele frequency: 9.506787846522416e-6
allele num: 105188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-18A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-18A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-18A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-18A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-18A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-18A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-18A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-18A>G
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19472
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

21-45746025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746025
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746025
    reference: chr 21
allele count: 12
allele frequency: 1.142944224321853e-4
allele num: 104992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-17C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-17C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-17C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-17C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-17C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-17C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-17C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-17C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19607
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7903
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12776
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

21-45746026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746026
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746026
    reference: chr 21
allele count: 8
allele frequency: 7.613536868552285e-5
allele num: 105076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-16G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-16G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

21-45746028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746028
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746028
    reference: chr 21
allele count: 1
allele frequency: 9.49902160077512e-6
allele num: 105274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-14G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-14G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-14G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-14G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-14G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-14G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-14G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-14G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

21-45746029-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746029
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746027
    reference: chr 21
allele count: 1
allele frequency: 9.486945962355799e-6
allele num: 105408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-10_2355-9delCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-10_2090-9delCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-10_5219-9delCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-10_2051-9delCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-10_2231-9delCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-10_*2439-9delCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-10_5240-9delCT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-10_1180-9delCT
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: CCT
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

21-45746040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746040
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746040
    reference: chr 21
allele count: 1
allele frequency: 9.380335065568542e-6
allele num: 106606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2051-2A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2439-2A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2090-2A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5240-2A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2355-2A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5219-2A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1180-2A>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2231-2A>G
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2090-2A>G
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

21-45746044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746044
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746044
    reference: chr 21
allele count: 3
allele frequency: 2.808305094265441e-5
allele num: 106826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2053C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2092C>T
  hgvsp: ENSP00000269848.6:p.Arg698Trp
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2233C>T
  hgvsp: ENSP00000384038.1:p.Arg745Trp
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5221C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2441C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2357C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1182C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5242C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25772
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg698Trp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

21-45746045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746045
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746045
    reference: chr 21
allele count: 2
allele frequency: 1.867727535907062e-5
allele num: 107082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5222G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5243G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2093G>A
  hgvsp: ENSP00000269848.6:p.Arg698Gln
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2234G>A
  hgvsp: ENSP00000384038.1:p.Arg745Gln
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2054G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2358G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2442G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1183G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg698Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

21-45746046-G-GGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746046
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746048
    reference: chr 21
allele count: 1
allele frequency: 9.30769373964519e-6
allele num: 107438
alternate allele: GGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2058_2059dupGT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5247_5248dupGT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1187_1188dupGT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2446_*2447dupGT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5226_5227dupGT
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2097_2098dupGT
  hgvsp: ENSP00000269848.6:p.Phe700CysfsTer11
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2238_2239dupGT
  hgvsp: ENSP00000384038.1:p.Phe747CysfsTer11
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2362_2363dupGT
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 26703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe700CysfsTer11
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

21-45746052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746052
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746052
    reference: chr 21
allele count: 2
allele frequency: 1.848633859577772e-5
allele num: 108188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5250C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2100C>T
  hgvsp: ENST00000349048.4:c.2100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2449C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1190C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2061C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2241C>T
  hgvsp: ENST00000403390.1:c.2241C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5229C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2365C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe700Phe
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

21-45746058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746058
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746058
    reference: chr 21
allele count: 1
allele frequency: 9.135423518234305e-6
allele num: 109464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5235T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2455T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1196T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2067T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2247T>C
  hgvsp: ENST00000403390.1:c.2247T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2106T>C
  hgvsp: ENST00000349048.4:c.2106T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5256T>C
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2371T>C
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn702Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

21-45746067-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746067
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746067
    reference: chr 21
allele count: 122
allele frequency: 1.107258898912708e-3
allele num: 110182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5265C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5244C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2464C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2076C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1205C>G
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2256C>G
  hgvsp: ENSP00000384038.1:p.Asp752Glu
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2115C>G
  hgvsp: ENSP00000269848.6:p.Asp705Glu
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2380C>G
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31641
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp705Glu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

21-45746069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746069
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746069
    reference: chr 21
allele count: 3
allele frequency: 2.718770390777931e-5
allele num: 110344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2078C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2466C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2382C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2117C>T
  hgvsp: ENSP00000269848.6:p.Ser706Leu
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5267C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2258C>T
  hgvsp: ENSP00000384038.1:p.Ser753Leu
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5246C>T
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1207C>T
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser706Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

21-45746070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746070
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45746070
    reference: chr 21
allele count: 20
allele frequency: 1.808874337499774e-4
allele num: 110566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000384038
  ensembl transcript: ENST00000403390
  gene symbol: PFKL
  hgvsc: ENST00000403390.1:c.2259G>A
  hgvsp: ENST00000403390.1:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000467315
  gene symbol: PFKL
  hgvsc: ENST00000467315.1:n.1208G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000381052
  ensembl transcript: ENST00000397961
  gene symbol: PFKL
  hgvsc: ENST00000397961.2:c.*2467G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141959
  ensembl protein: ENSP00000269848
  ensembl transcript: ENST00000349048
  gene symbol: PFKL
  hgvsc: ENST00000349048.4:c.2118G>A
  hgvsp: ENST00000349048.4:c.2118G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000466134
  gene symbol: PFKL
  hgvsc: ENST00000466134.1:n.5247G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000474114
  gene symbol: PFKL
  hgvsc: ENST00000474114.1:n.5268G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000498841
  gene symbol: PFKL
  hgvsc: ENST00000498841.1:n.2383G>A
  variant of: http://identifiers.org/hgnc/8876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141959
  ensembl transcript: ENST00000460521
  gene symbol: PFKL
  hgvsc: ENST00000460521.1:n.2079G>A
  variant of: http://identifiers.org/hgnc/8876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser706Ser
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 573
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4496
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.380548324938305e-5
allele num: 59162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

FS
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

QD
type: SiteQuality
SIO_000300: 1.533e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.145839e6

GenotypeQuality
all individuals: 649
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6285
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4983
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.40866482598766e-5
allele num: 58674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

DP
type: SiteQuality
SIO_000300: 1.113209e6

QD
type: SiteQuality
SIO_000300: 1.691e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.012882447665056e-4
allele num: 9936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.752234098475556e-5
allele num: 57070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

DP
type: SiteQuality
SIO_000300: 1.053997e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.833e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56728
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.146788990825688e-4
allele num: 8720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.045362e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 1.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 7.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.958480219349785e-4
allele num: 5106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.045362e6

QD
type: SiteQuality
SIO_000300: 7.29e0

FS
type: SiteQuality
SIO_000300: 1.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

VQSLOD
type: SiteQuality
SIO_000300: -5.54e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.778093883357041e-5
allele num: 56240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15306
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 2.201e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

VQSLOD
type: SiteQuality
SIO_000300: -1.485e0

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

DP
type: SiteQuality
SIO_000300: 1.035929e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

GenotypeQuality
all individuals: 695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1709
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15262
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.223158466974721e-3
allele num: 7358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

African
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: 55894
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.045e1

FS
type: SiteQuality
SIO_000300: 1.727e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 1.032664e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2459
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.68359844940516e-5
allele num: 14962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.009533e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 542
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.687088539567379e-4
allele num: 14886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.108e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 1.006116e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.752e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.814882032667876e-4
allele num: 5510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44142
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.907e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.89355e5

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10842
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.805706031058144e-4
allele num: 5538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6932
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.619e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

DP
type: SiteQuality
SIO_000300: 7.94797e5

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeQuality
all individuals: 1727
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6454
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6609
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 663
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17413
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 446
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.239240449639482e-5
allele num: 44658
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 9.104151493080845e-4
allele num: 10984
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.661129568106312e-3
allele num: 602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 8.04955e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

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

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 1697
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2610
bin: 7.5e0
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GenotypeQuality
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6063
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8726
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.438848920863309e-4
allele num: 6950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 8.08599e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

QD
type: SiteQuality
SIO_000300: 1.496e1

GenotypeQuality
all individuals: 316
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18681
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5620
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8387
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9807
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.459010722933241e-4
allele num: 5782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.40588e5

QD
type: SiteQuality
SIO_000300: 1.595e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

GenotypeQuality
all individuals: 240
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

South Asian
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: 1.666111296234589e-4
allele num: 6002
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.575689991636465e-4
allele num: 7174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.494066421924357e-4
allele num: 46852
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.251e0

DP
type: SiteQuality
SIO_000300: 8.97948e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

QD
type: SiteQuality
SIO_000300: 1.475e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
all individuals: 535
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 958
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11658
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 8.21827744904668e-4
allele num: 6084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47330
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

DP
type: SiteQuality
SIO_000300: 9.14535e5

MQ
type: SiteQuality
SIO_000300: 6.057e1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

QD
type: SiteQuality
SIO_000300: 1.207e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.94e-1

GenotypeQuality
all individuals: 6100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4923
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
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GenotypeQuality
all individuals: 923
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.25e1
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GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 17875
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.234154856406633e-5
allele num: 48122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.49762066621346e-5
allele num: 11768
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.378e1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

FS
type: SiteQuality
SIO_000300: 1.509e0

DP
type: SiteQuality
SIO_000300: 9.56439e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 21319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
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GenotypeQuality
all individuals: 404
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 1836
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 17535
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variant carriers: 0

GenotypeQuality
all individuals: 5679
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11978
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.589825119236884e-4
allele num: 6290
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.311647429171039e-4
allele num: 7624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.092825277288913e-5
allele num: 48866
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.75929e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

GenotypeQuality
all individuals: 16905
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
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variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 23167
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.000880387370443e-5
allele num: 49978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12198
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.00198e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.245e0

QD
type: SiteQuality
SIO_000300: 1.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 2.182e0

MQ
type: SiteQuality
SIO_000300: 4.976e1

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1786
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
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variant carriers: 0

GenotypeQuality
all individuals: 606
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variant carriers: 0

GenotypeQuality
all individuals: 502
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variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.328609388839681e-3
allele num: 4516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.718685549291902e-5
allele num: 58184
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.049e1

FS
type: SiteQuality
SIO_000300: 1.3271e1

DP
type: SiteQuality
SIO_000300: 1.216598e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.466e0

GenotypeQuality
all individuals: 414
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 524
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1497
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.28675966155957e-4
allele num: 8746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.686226898691488e-5
allele num: 59304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14296
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.249898e6

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 7.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.437843784378438e-4
allele num: 14544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4742
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.329e1

FS
type: SiteQuality
SIO_000300: 3.275e0

DP
type: SiteQuality
SIO_000300: 1.271987e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
all individuals: 443
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 420
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variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.636714786081377e-5
allele num: 61098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 4.889e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.293014e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

GenotypeQuality
all individuals: 261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 157
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 630
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65016
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.003003003003003e-4
allele num: 9990
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.399331e6

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.98e-1

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.156119182467373e-5
allele num: 16244
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.401337e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.634e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.83e0

GenotypeQuality
all individuals: 51148
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.15839389087326e-5
allele num: 16238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.129e0

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.64e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.026e-1

DP
type: SiteQuality
SIO_000300: 1.401079e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 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: 5644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1667488899852e-5
allele num: 16216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64984
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

FS
type: SiteQuality
SIO_000300: 1.914e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

DP
type: SiteQuality
SIO_000300: 1.39611e6

QD
type: SiteQuality
SIO_000300: 9.73e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64950
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.183e-1

DP
type: SiteQuality
SIO_000300: 1.395779e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 1.053e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.156e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.789e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 230
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GenotypeQuality
all individuals: 435
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GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540262460723307e-5
allele num: 64924
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.273e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

DP
type: SiteQuality
SIO_000300: 1.39506e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 4.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
all individuals: 448
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.036217303822937e-4
allele num: 9940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64826
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.209e1

DP
type: SiteQuality
SIO_000300: 1.388143e6

GenotypeQuality
all individuals: 425
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 671
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variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.867529880478088e-4
allele num: 16064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.195e0

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 1.861e0

DP
type: SiteQuality
SIO_000300: 1.374268e6

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 217
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GenotypeQuality
all individuals: 3682
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175088131609871e-4
allele num: 8510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.705479239666346e-4
allele num: 64498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 1.859e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.372482e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 3527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 47860
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variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 9.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.116429818000498e-4
allele num: 16044
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64474
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 4.476e0

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 1.369205e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 434
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GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.110032966349443e-5
allele num: 64308
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.018329938900204e-4
allele num: 9820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.801801801801802e-4
allele num: 5550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.379e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.189e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 3.198e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.362341e6

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 8

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.979885057471264e-5
allele num: 11136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.139942880456956e-4
allele num: 9804
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 1.864e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

DP
type: SiteQuality
SIO_000300: 1.358299e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 940
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 220
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64264
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177578897786152e-4
allele num: 8492
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

FS
type: SiteQuality
SIO_000300: 1.864e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 1.358299e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.713715959369352e-4
allele num: 64188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.114e1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.053e0

DP
type: SiteQuality
SIO_000300: 1.354769e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1607
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
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GenotypeQuality
all individuals: 121
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 379
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GenotypeQuality
all individuals: 431
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variant carriers: 1

GenotypeQuality
all individuals: 203
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GenotypeQuality
all individuals: 768
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
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: 5466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57153633392004e-5
allele num: 63632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

QD
type: SiteQuality
SIO_000300: 1.587e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.329578e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 1.149e0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41699
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15852
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5450
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 1.321678e6

GenotypeQuality
all individuals: 1714
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 467
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5917
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.099173553719008e-4
allele num: 9680
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.729473875841981e-3
allele num: 10986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.207729468599034e-3
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 7.328691828508611e-4
allele num: 5458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 106
allele frequency: 1.669659452477712e-3
allele num: 63486
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.048592704783542e-4
allele num: 15846
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.317756e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

FS
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

GenotypeQuality
all individuals: 483
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.75e1
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GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584585155606262e-5
allele num: 63108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15768
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.833e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.29116e6

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.196e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.146e0

GenotypeQuality
all individuals: 491
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3729
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2935
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variant carriers: 0

GenotypeQuality
all individuals: 1468
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variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
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variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621008267142162e-5
allele num: 61690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10666
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.876e1

VQSLOD
type: SiteQuality
SIO_000300: -2.401e0

FS
type: SiteQuality
SIO_000300: 3.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.872e0

QD
type: SiteQuality
SIO_000300: 1.419e1

DP
type: SiteQuality
SIO_000300: 1.20141e6

GenotypeQuality
all individuals: 10430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1273
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 582
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variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
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variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.076426264800861e-4
allele num: 9290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15444
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.190492e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.329e1

GenotypeQuality
all individuals: 3218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26241
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variant carriers: 0

GenotypeQuality
all individuals: 1754
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variant carriers: 0

GenotypeQuality
all individuals: 1287
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variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.171536902660653e-5
allele num: 61188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.152852529601722e-4
allele num: 9290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.329e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

FS
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.190492e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

GenotypeQuality
all individuals: 221
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
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variant carriers: 0

GenotypeQuality
all individuals: 10584
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 3966
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.456611570247934e-5
allele num: 15488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
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: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.187654e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.748e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 1.7816e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

QD
type: SiteQuality
SIO_000300: 7.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e0

GenotypeQuality
all individuals: 25577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
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variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 514
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GenotypeQuality
all individuals: 1680
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variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.08695652173913e-4
allele num: 9200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

DP
type: SiteQuality
SIO_000300: 1.167629e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

GenotypeQuality
all individuals: 1547
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 7.5e0
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GenotypeQuality
all individuals: 4252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.565716472163765e-5
allele num: 10454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.936808846761453e-5
allele num: 60768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.258178158027177e-4
allele num: 7948
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 9.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.167629e6

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.514657980456026e-5
allele num: 15350
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.088613106901807e-4
allele num: 9186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5164
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.345e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.184e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.166926e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5096
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.665833749791771e-5
allele num: 60030
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.757e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 4.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.139e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.279099513942185e-4
allele num: 7818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.122431e6

VQSLOD
type: SiteQuality
SIO_000300: -8.471e-1

QD
type: SiteQuality
SIO_000300: 1.688e1

FS
type: SiteQuality
SIO_000300: 4.418e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 495
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.950078003120125e-4
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.375770570892522e-5
allele num: 59696
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.109023e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
type: SiteQuality
SIO_000300: 1.274e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

FS
type: SiteQuality
SIO_000300: 1.819e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.013741833746339e-3
allele num: 8878
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58818
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.991238550378335e-4
allele num: 10044
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

DP
type: SiteQuality
SIO_000300: 1.08723e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730043943116155e-5
allele num: 57802
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.311e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

DP
type: SiteQuality
SIO_000300: 1.072194e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

East Asian
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allele frequency: 1.341561577676415e-4
allele num: 7454
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.072473e6

QD
type: SiteQuality
SIO_000300: 3.46e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.73406395227856e-5
allele num: 57668
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South Asian
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Other
type: Population
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4912
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

Latino
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num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.871e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57634
num of homozygotes: 0

South Asian
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allele frequency: 6.68359844940516e-5
allele num: 14962
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.08e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

DP
type: SiteQuality
SIO_000300: 1.075582e6

GenotypeQuality
all individuals: 684
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13204
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.732321657485362e-5
allele num: 57726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.079752e6

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.035e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 421
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4692
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.723959590387201e-5
allele num: 58006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15044
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.226e0

QD
type: SiteQuality
SIO_000300: 1.119e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

DP
type: SiteQuality
SIO_000300: 1.110348e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
all individuals: 648
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3789
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23299
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variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.723443223443224e-4
allele num: 8736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.996007984031936e-4
allele num: 5010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.03612626925468e-4
allele num: 57908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.335e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 1.114423e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

GenotypeQuality
all individuals: 3658
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4530
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 312
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variant carriers: 0

GenotypeQuality
all individuals: 1234
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variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 6

GenotypeQuality
all individuals: 177
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variant carriers: 1

GenotypeQuality
all individuals: 12697
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GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 426
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.329964090969544e-4
allele num: 15038
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.142334932602239e-4
allele num: 8754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.627234453723514e-5
allele num: 57956
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.119321e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1821
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5270
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
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variant carriers: 0

GenotypeQuality
all individuals: 1335
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variant carriers: 0

GenotypeQuality
all individuals: 294
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variant carriers: 0

GenotypeQuality
all individuals: 418
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variant carriers: 1

GenotypeQuality
all individuals: 93
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GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 23501
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GenotypeQuality
all individuals: 4443
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 2250
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.721407422708807e-5
allele num: 58092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5008
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.386e0

DP
type: SiteQuality
SIO_000300: 1.126263e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 1.0358e1

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-1

GenotypeQuality
all individuals: 1735
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
all individuals: 1290
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 418
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 399
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719276528436834e-5
allele num: 58164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.466e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.325e1

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.131681e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
all individuals: 419
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3961
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 515
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GenotypeQuality
all individuals: 582
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29739
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11266
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variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699755235246124e-5
allele num: 58832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.605e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.395e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

FS
type: SiteQuality
SIO_000300: 2.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 1.175928e6

GenotypeQuality
all individuals: 956
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 3331
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 1307
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GenotypeQuality
all individuals: 579
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GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 422
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variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
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GenotypeQuality
all individuals: 3592
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GenotypeQuality
all individuals: 1330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 1

GenotypeQuality
all individuals: 30451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.696698225253656e-5
allele num: 58938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.272264631043257e-3
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.612881893929374e-5
allele num: 15122
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 1.3976e1

VQSLOD
type: SiteQuality
SIO_000300: -9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.504e1

DP
type: SiteQuality
SIO_000300: 1.191657e6

GenotypeQuality
all individuals: 2326
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
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GenotypeQuality
all individuals: 2691
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GenotypeQuality
all individuals: 1143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
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GenotypeQuality
all individuals: 1228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
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variant carriers: 2

GenotypeQuality
all individuals: 425
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GenotypeQuality
all individuals: 545
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.579313902501935e-4
allele num: 7754
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.447e0

FS
type: SiteQuality
SIO_000300: 4.105e0

MQRankSum
type: SiteQuality
SIO_000300: -1.161e0

QD
type: SiteQuality
SIO_000300: 2.678e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 1.19863e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59236
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.123595505617978e-4
allele num: 8900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15190
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.186e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e-1

DP
type: SiteQuality
SIO_000300: 1.202791e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

QD
type: SiteQuality
SIO_000300: 3.156e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.105e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 2862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2757
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.31457867753385e-4
allele num: 15214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.631e0

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

FS
type: SiteQuality
SIO_000300: 1.008e0

QD
type: SiteQuality
SIO_000300: 1.364e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.225106e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
all individuals: 2289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65809981760902e-5
allele num: 60310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9060
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.251607e6

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -5.102e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

FS
type: SiteQuality
SIO_000300: 1.875e0

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.75e1
variant carriers: 122

GenotypeQuality
all individuals: 622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 1

African
type: Population
allele count: 5
allele frequency: 5.47645125958379e-4
allele num: 9130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15380
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.211782252050708e-3
allele num: 10728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 103
allele frequency: 1.696534457767822e-3
allele num: 60712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.87125748502994e-4
allele num: 5344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

DP
type: SiteQuality
SIO_000300: 1.277289e6

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
all individuals: 1714
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7830
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.490977541217708e-5
allele num: 15406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.860811313732788e-4
allele num: 5374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.645169781521453e-5
allele num: 60784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 2.751e0

DP
type: SiteQuality
SIO_000300: 1.283971e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.171e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0