http://identifiers.org/exac.variant/22-45601668-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601668
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601668
    reference: chr 22
allele count: 3
allele frequency: 2.53074859543453e-5
allele num: 118542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.282+6G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.437+6G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.234+6G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.234+6G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.351+6G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.336+6G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.282+6G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*233+6G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.622+6G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.57+6G>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13749
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
hgvs: c.351+6G>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

22-45601677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601677
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601677
    reference: chr 22
allele count: 3
allele frequency: 2.52177129215561e-5
allele num: 118964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.434G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.279G>A
  hgvsp: ENST00000424508.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.619G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.54G>A
  hgvsp: ENST00000423262.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.279G>A
  hgvsp: ENST00000443310.3:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.231G>A
  hgvsp: ENST00000391627.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.348G>A
  hgvsp: ENST00000251993.7:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*230G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.231G>A
  hgvsp: ENST00000414854.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.333G>A
  hgvsp: ENST00000336156.5:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln116Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-45601682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601682
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601682
    reference: chr 22
allele count: 1
allele frequency: 8.398562166157153e-6
allele num: 119068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.328C>T
  hgvsp: ENST00000336156.5:c.328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.343C>T
  hgvsp: ENST00000251993.7:c.343C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.429C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.274C>T
  hgvsp: ENST00000424508.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.49C>T
  hgvsp: ENST00000423262.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*225C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.614C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.226C>T
  hgvsp: ENST00000391627.2:c.226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.274C>T
  hgvsp: ENST00000443310.3:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.226C>T
  hgvsp: ENST00000414854.1:c.226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16812
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu115Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-45601683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601683
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601683
    reference: chr 22
allele count: 1
allele frequency: 8.390951198227832e-6
allele num: 119176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.428C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.273C>T
  hgvsp: ENST00000424508.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*224C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.48C>T
  hgvsp: ENST00000423262.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.273C>T
  hgvsp: ENST00000443310.3:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.613C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.225C>T
  hgvsp: ENST00000391627.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.342C>T
  hgvsp: ENST00000251993.7:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.327C>T
  hgvsp: ENST00000336156.5:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.225C>T
  hgvsp: ENST00000414854.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile114Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

22-45601685-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601685
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601685
    reference: chr 22
allele count: 1
allele frequency: 8.386166180269028e-6
allele num: 119244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.223A>G
  hgvsp: ENSP00000375485.2:p.Ile75Val
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.46A>G
  hgvsp: ENSP00000399125.1:p.Ile16Val
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.325A>G
  hgvsp: ENSP00000336720.4:p.Ile109Val
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.271A>G
  hgvsp: ENSP00000392752.1:p.Ile91Val
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.223A>G
  hgvsp: ENSP00000403030.1:p.Ile75Val
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.271A>G
  hgvsp: ENSP00000389482.3:p.Ile91Val
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.426A>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.340A>G
  hgvsp: ENSP00000251993.7:p.Ile114Val
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.611A>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*222A>G
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16999
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile114Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-45601695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601695
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601695
    reference: chr 22
allele count: 4
allele frequency: 3.347616497054097e-5
allele num: 119488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.601C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.261C>T
  hgvsp: ENST00000443310.3:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.261C>T
  hgvsp: ENST00000424508.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.330C>T
  hgvsp: ENST00000251993.7:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.36C>T
  hgvsp: ENST00000423262.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.213C>T
  hgvsp: ENST00000414854.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.416C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.315C>T
  hgvsp: ENST00000336156.5:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*212C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.213C>T
  hgvsp: ENST00000391627.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17652
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys110Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

22-45601698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601698
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601698
    reference: chr 22
allele count: 1
allele frequency: 8.357290900581667e-6
allele num: 119656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.598C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.327C>T
  hgvsp: ENST00000251993.7:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.210C>T
  hgvsp: ENST00000391627.2:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.312C>T
  hgvsp: ENST00000336156.5:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*209C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.413C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.33C>T
  hgvsp: ENST00000423262.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.258C>T
  hgvsp: ENST00000424508.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.258C>T
  hgvsp: ENST00000443310.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.210C>T
  hgvsp: ENST00000414854.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10771
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val109Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

22-45601700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601700
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601700
    reference: chr 22
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.411G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.596G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.310G>A
  hgvsp: ENSP00000336720.4:p.Val104Ile
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*207G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.256G>A
  hgvsp: ENSP00000392752.1:p.Val86Ile
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.256G>A
  hgvsp: ENSP00000389482.3:p.Val86Ile
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.325G>A
  hgvsp: ENSP00000251993.7:p.Val109Ile
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.208G>A
  hgvsp: ENSP00000403030.1:p.Val70Ile
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.31G>A
  hgvsp: ENSP00000399125.1:p.Val11Ile
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.208G>A
  hgvsp: ENSP00000375485.2:p.Val70Ile
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17908
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val109Ile
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

22-45601701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601701
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601701
    reference: chr 22
allele count: 2
allele frequency: 1.670397220459025e-5
allele num: 119732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.324C>T
  hgvsp: ENST00000251993.7:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.255C>T
  hgvsp: ENST00000424508.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*206C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.30C>T
  hgvsp: ENST00000423262.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.207C>T
  hgvsp: ENST00000414854.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.207C>T
  hgvsp: ENST00000391627.2:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.595C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.410C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.309C>T
  hgvsp: ENST00000336156.5:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.255C>T
  hgvsp: ENST00000443310.3:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser108Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

22-45601701-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601701
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601701
    reference: chr 22
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.324C>G
  hgvsp: ENSP00000251993.7:p.Ser108Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.207C>G
  hgvsp: ENSP00000403030.1:p.Ser69Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.410C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.255C>G
  hgvsp: ENSP00000392752.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.595C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.30C>G
  hgvsp: ENSP00000399125.1:p.Ser10Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.207C>G
  hgvsp: ENSP00000375485.2:p.Ser69Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.309C>G
  hgvsp: ENSP00000336720.4:p.Ser103Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.255C>G
  hgvsp: ENSP00000389482.3:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*206C>G
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser108Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

22-45601704-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601704
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601704
    reference: chr 22
allele count: 2
allele frequency: 1.667444807576869e-5
allele num: 119944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.407G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.306G>C
  hgvsp: ENSP00000336720.4:p.Glu102Asp
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.252G>C
  hgvsp: ENSP00000392752.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.204G>C
  hgvsp: ENSP00000375485.2:p.Glu68Asp
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.252G>C
  hgvsp: ENSP00000389482.3:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.27G>C
  hgvsp: ENSP00000399125.1:p.Glu9Asp
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.321G>C
  hgvsp: ENSP00000251993.7:p.Glu107Asp
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.204G>C
  hgvsp: ENSP00000403030.1:p.Glu68Asp
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*203G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.592G>C
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu107Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

22-45601706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601706
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601706
    reference: chr 22
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.202G>A
  hgvsp: ENSP00000375485.2:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.202G>A
  hgvsp: ENSP00000403030.1:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.319G>A
  hgvsp: ENSP00000251993.7:p.Glu107Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.250G>A
  hgvsp: ENSP00000392752.1:p.Glu84Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.405G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.250G>A
  hgvsp: ENSP00000389482.3:p.Glu84Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.25G>A
  hgvsp: ENSP00000399125.1:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.304G>A
  hgvsp: ENSP00000336720.4:p.Glu102Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*201G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.590G>A
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu107Lys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

22-45601709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601709
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601709
    reference: chr 22
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.402G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.587G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.247G>A
  hgvsp: ENSP00000389482.3:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.301G>A
  hgvsp: ENSP00000336720.4:p.Glu101Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.316G>A
  hgvsp: ENSP00000251993.7:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.199G>A
  hgvsp: ENSP00000375485.2:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.22G>A
  hgvsp: ENSP00000399125.1:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.199G>A
  hgvsp: ENSP00000403030.1:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.247G>A
  hgvsp: ENSP00000392752.1:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu106Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

22-45601715-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601715
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601715
    reference: chr 22
allele count: 2
allele frequency: 1.66306336271412e-5
allele num: 120260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.241G>C
  hgvsp: ENSP00000392752.1:p.Asp81His
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.16G>C
  hgvsp: ENSP00000399125.1:p.Asp6His
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.396G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.241G>C
  hgvsp: ENSP00000389482.3:p.Asp81His
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.193G>C
  hgvsp: ENSP00000403030.1:p.Asp65His
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*192G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.295G>C
  hgvsp: ENSP00000336720.4:p.Asp99His
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.193G>C
  hgvsp: ENSP00000375485.2:p.Asp65His
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.310G>C
  hgvsp: ENSP00000251993.7:p.Asp104His
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.581G>C
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp104His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

22-45601715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601715
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601715
    reference: chr 22
allele count: 14
allele frequency: 1.164144353899884e-4
allele num: 120260
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.310G>A
  hgvsp: ENSP00000251993.7:p.Asp104Asn
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.241G>A
  hgvsp: ENSP00000389482.3:p.Asp81Asn
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.295G>A
  hgvsp: ENSP00000336720.4:p.Asp99Asn
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.241G>A
  hgvsp: ENSP00000392752.1:p.Asp81Asn
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.193G>A
  hgvsp: ENSP00000375485.2:p.Asp65Asn
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.16G>A
  hgvsp: ENSP00000399125.1:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.581G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*192G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.396G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.193G>A
  hgvsp: ENSP00000403030.1:p.Asp65Asn
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28757
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp104Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

22-45601716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601716
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601716
    reference: chr 22
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.294C>T
  hgvsp: ENST00000336156.5:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.192C>T
  hgvsp: ENST00000391627.2:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.192C>T
  hgvsp: ENST00000414854.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.240C>T
  hgvsp: ENST00000424508.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.240C>T
  hgvsp: ENST00000443310.3:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.580C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.309C>T
  hgvsp: ENST00000251993.7:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.15C>T
  hgvsp: ENST00000423262.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.395C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile103Ile
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

22-45601722-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601722
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601722
    reference: chr 22
allele count: 1
allele frequency: 8.300270588821196e-6
allele num: 120478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*185T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.288T>C
  hgvsp: ENST00000336156.5:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.186T>C
  hgvsp: ENST00000414854.1:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.389T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.9T>C
  hgvsp: ENST00000423262.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.234T>C
  hgvsp: ENST00000443310.3:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.234T>C
  hgvsp: ENST00000424508.1:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.574T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.186T>C
  hgvsp: ENST00000391627.2:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.303T>C
  hgvsp: ENST00000251993.7:c.303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4880
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro101Pro
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

22-45601723-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601723
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601723
    reference: chr 22
allele count: 4
allele frequency: 3.319887787792772e-5
allele num: 120486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.287C>G
  hgvsp: ENSP00000336720.4:p.Pro96Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.233C>G
  hgvsp: ENSP00000392752.1:p.Pro78Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.573C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.8C>G
  hgvsp: ENSP00000399125.1:p.Pro3Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.233C>G
  hgvsp: ENSP00000389482.3:p.Pro78Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*184C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.185C>G
  hgvsp: ENSP00000403030.1:p.Pro62Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.302C>G
  hgvsp: ENSP00000251993.7:p.Pro101Arg
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.388C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.185C>G
  hgvsp: ENSP00000375485.2:p.Pro62Arg
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro101Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

22-45601724-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601724
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601724
    reference: chr 22
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.286C>G
  hgvsp: ENSP00000336720.4:p.Pro96Ala
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.184C>G
  hgvsp: ENSP00000375485.2:p.Pro62Ala
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.232C>G
  hgvsp: ENSP00000389482.3:p.Pro78Ala
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.387C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*183C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.301C>G
  hgvsp: ENSP00000251993.7:p.Pro101Ala
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.7C>G
  hgvsp: ENSP00000399125.1:p.Pro3Ala
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.184C>G
  hgvsp: ENSP00000403030.1:p.Pro62Ala
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.572C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.232C>G
  hgvsp: ENSP00000392752.1:p.Pro78Ala
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro101Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-45601725-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601725
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601725
    reference: chr 22
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.183C>A
  hgvsp: ENSP00000375485.2:p.Asp61Glu
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.300C>A
  hgvsp: ENSP00000251993.7:p.Asp100Glu
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.285C>A
  hgvsp: ENSP00000336720.4:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.231C>A
  hgvsp: ENSP00000392752.1:p.Asp77Glu
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.386C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.183C>A
  hgvsp: ENSP00000403030.1:p.Asp61Glu
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.571C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.231C>A
  hgvsp: ENSP00000389482.3:p.Asp77Glu
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*182C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000399125
  ensembl transcript: ENST00000423262
  gene symbol: KIAA0930
  hgvsc: ENST00000423262.1:c.6C>A
  hgvsp: ENSP00000399125.1:p.Asp2Glu
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp100Glu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

22-45601752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601752
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601752
    reference: chr 22
allele count: 9
allele frequency: 7.453045811388254e-5
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.258C>T
  hgvsp: ENST00000336156.5:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.204C>T
  hgvsp: ENST00000443310.3:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.156C>T
  hgvsp: ENST00000391627.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.156C>T
  hgvsp: ENST00000414854.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.359C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.273C>T
  hgvsp: ENST00000251993.7:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*155C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.544C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.204C>T
  hgvsp: ENST00000424508.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp91Asp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

22-45601760-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601760
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601760
    reference: chr 22
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.196C>A
  hgvsp: ENST00000443310.3:c.196C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.148C>A
  hgvsp: ENST00000414854.1:c.148C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*147C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.250C>A
  hgvsp: ENST00000336156.5:c.250C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.265C>A
  hgvsp: ENST00000251993.7:c.265C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.148C>A
  hgvsp: ENST00000391627.2:c.148C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.196C>A
  hgvsp: ENST00000424508.1:c.196C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.536C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.351C>A
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg89Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

22-45601761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601761
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601761
    reference: chr 22
allele count: 2
allele frequency: 1.654341820106871e-5
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.195C>T
  hgvsp: ENST00000424508.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.195C>T
  hgvsp: ENST00000443310.3:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.264C>T
  hgvsp: ENST00000251993.7:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.350C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.147C>T
  hgvsp: ENST00000414854.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.249C>T
  hgvsp: ENST00000336156.5:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.147C>T
  hgvsp: ENST00000391627.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.535C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr88Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-45601770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601770
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601770
    reference: chr 22
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.526G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.138G>A
  hgvsp: ENST00000414854.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*137G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.255G>A
  hgvsp: ENST00000251993.7:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.240G>A
  hgvsp: ENST00000336156.5:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.186G>A
  hgvsp: ENST00000443310.3:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.138G>A
  hgvsp: ENST00000391627.2:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*217G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.341G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.186G>A
  hgvsp: ENST00000424508.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val85Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

22-45601787-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601787
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601787
    reference: chr 22
allele count: 6
allele frequency: 4.97471188127021e-5
allele num: 120610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.121G>C
  hgvsp: ENSP00000403030.1:p.Glu41Gln
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.509G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*120G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.169G>C
  hgvsp: ENSP00000392752.1:p.Glu57Gln
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.324G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*200G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.169G>C
  hgvsp: ENSP00000389482.3:p.Glu57Gln
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.121G>C
  hgvsp: ENSP00000375485.2:p.Glu41Gln
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.223G>C
  hgvsp: ENSP00000336720.4:p.Glu75Gln
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.238G>C
  hgvsp: ENSP00000251993.7:p.Glu80Gln
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu80Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

22-45601793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601793
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601793
    reference: chr 22
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115G>A
  hgvsp: ENSP00000375485.2:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217G>A
  hgvsp: ENSP00000336720.4:p.Ala73Thr
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163G>A
  hgvsp: ENSP00000392752.1:p.Ala55Thr
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232G>A
  hgvsp: ENSP00000251993.7:p.Ala78Thr
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115G>A
  hgvsp: ENSP00000403030.1:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163G>A
  hgvsp: ENSP00000389482.3:p.Ala55Thr
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503G>A
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala78Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

22-45601796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601796
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601796
    reference: chr 22
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-3C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-3C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-3C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-3C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-3C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-3C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-3C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-3C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-3C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-3C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
hgvs: c.232-3C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

22-45601797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601797
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601797
    reference: chr 22
allele count: 4
allele frequency: 3.321486697445776e-5
allele num: 120428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-4G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-4G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-4G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-4G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-4G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-4G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-4G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-4G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-4G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-4G>A
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
hgvs: c.232-4G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

22-45601799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601799
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601799
    reference: chr 22
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-6T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-6T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-6T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-6T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-6T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-6T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-6T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-6T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-6T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-6T>C
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17636
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27233
  bin: 6.25e1
  variant carriers: 0
hgvs: c.232-6T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

22-45601801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601801
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601801
    reference: chr 22
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-8C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-8C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-8C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-8C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-8C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-8C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-8C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-8C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-8C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-8C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 7.75e1
  variant carriers: 0
hgvs: c.232-8C>T
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

22-45601808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601808
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601808
    reference: chr 22
allele count: 66
allele frequency: 5.486649153725934e-4
allele num: 120292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-15C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-15C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-15C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-15C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-15C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-15C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-15C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-15C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-15C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-15C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17913
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17579
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9267
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

22-45601815-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601815
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601815
    reference: chr 22
allele count: 1
allele frequency: 8.319605983460623e-6
allele num: 120198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-22A>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-22A>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-22A>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-22A>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-22A>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-22A>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-22A>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-22A>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-22A>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-22A>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-45601816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601816
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601816
    reference: chr 22
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-23C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-23C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-23C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-23C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-23C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-23C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-23C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-23C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-23C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-23C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

22-45601821-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601821
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601821
    reference: chr 22
allele count: 1
allele frequency: 8.331111703545721e-6
allele num: 120032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-28G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-28G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-28G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-28G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-28G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-28G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-28G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-28G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-28G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-28G>C
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

22-45601826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601826
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601826
    reference: chr 22
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-33C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-33C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-33C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-33C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-33C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-33C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-33C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-33C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-33C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-33C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25290
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

22-45601830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601830
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601830
    reference: chr 22
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-37G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-37G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-37G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-37G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-37G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-37G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-37G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-37G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-37G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-37G>A
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-45601836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601836
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601836
    reference: chr 22
allele count: 3
allele frequency: 2.504926355165158e-5
allele num: 119764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-43C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-43C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-43C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-43C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-43C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-43C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-43C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-43C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-43C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-43C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4999
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

22-45601837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601837
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601837
    reference: chr 22
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-44C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-44C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-44C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-44C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-44C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-44C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-44C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-44C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-44C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-44C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

22-45601840-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601840
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601837
    reference: chr 22
allele count: 2
allele frequency: 1.671486118307788e-5
allele num: 119654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-50_115-48delAGA
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-50_163-48delAGA
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-50_232-48delAGA
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-50_503-48delAGA
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-50_217-48delAGA
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-50_163-48delAGA
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-50_318-48delAGA
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-50_*114-48delAGA
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-50_*194-48delAGA
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-50_115-48delAGA
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: CTCT
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

22-45601841-TCTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601841
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601837
    reference: chr 22
allele count: 1
allele frequency: 8.353660574063554e-6
allele num: 119708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-52_318-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-52_*194-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-52_*114-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-52_115-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-52_163-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-52_217-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-52_503-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-52_115-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-52_163-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-52_232-49delGAAG
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: TCTTC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/22-45601842-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45601842
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45601842
    reference: chr 22
allele count: 1
allele frequency: 8.355475342992263e-6
allele num: 119682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-49G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-49G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-49G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-49G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-49G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-49G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-49G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-49G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*114-49G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-49G>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

22-45603545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603545
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603545
    reference: chr 22
allele count: 568
allele frequency: 1.476091476091476e-1
allele num: 3848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1752G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1752G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1752G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1752G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1752G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1752G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1752G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1752G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1752G>A
  variant of: http://identifiers.org/hgnc/1314
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.75e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 2.5e0
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 2
num of homozygotes: 38
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

22-45603552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603552
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603552
    reference: chr 22
allele count: 2
allele frequency: 5.211047420531526e-4
allele num: 3838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1759G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1759G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1759G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1759G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1759G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1759G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1759G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1759G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1759G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/1314
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

22-45603561-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603561
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603561
    reference: chr 22
allele count: 1
allele frequency: 2.604166666666667e-4
allele num: 3840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.*6C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1768C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1768C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1768C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1768C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1768C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1768C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1768C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1768C>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1768C>A
  variant of: http://identifiers.org/hgnc/1314
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-45603582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603582
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603582
    reference: chr 22
allele count: 1
allele frequency: 2.605523710265763e-4
allele num: 3838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1789G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1789G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1789G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1789G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1789G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1789G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.198G>A
  hgvsp: ENST00000440039.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1789G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1789G>A
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1789G>A
  variant of: http://identifiers.org/hgnc/1314
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg66Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

22-45603631-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603631
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603631
    reference: chr 22
allele count: 423
allele frequency: 1.103286384976526e-1
allele num: 3834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1838G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.149G>C
  hgvsp: ENSP00000402514.1:p.Gly50Ala
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1838G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1838G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1838G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1838G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1838G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1838G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1838G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1838G>C
  variant of: http://identifiers.org/hgnc/1314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.5e0
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.5e0
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Gly50Ala
num of homozygotes: 30
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

22-45603638-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603638
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603638
    reference: chr 22
allele count: 569
allele frequency: 1.481770833333333e-1
allele num: 3840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1845T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.142T>C
  hgvsp: ENST00000440039.1:c.142T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1845T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1845T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1845T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1845T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1845T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1845T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1845T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1845T>C
  variant of: http://identifiers.org/hgnc/1314
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.5e0
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 244
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu48Leu
num of homozygotes: 38
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-45603654-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603654
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603654
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 3824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1861G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1861G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1861G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.127-1G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1861G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1861G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1861G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1861G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1861G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1861G>T
  variant of: http://identifiers.org/hgnc/1314
canonical: false
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 7.5e0
  variant carriers: 0
hgvs: c.127-1G>T
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

22-45603658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603658
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603658
    reference: chr 22
allele count: 1
allele frequency: 2.616431187859759e-4
allele num: 3822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1865C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1865C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1865C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1865C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1865C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1865C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1865C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1865C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.127-5C>G
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1865C>G
  variant of: http://identifiers.org/hgnc/1314
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
hgvs: c.127-5C>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

22-45603679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603679
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603679
    reference: chr 22
allele count: 1
allele frequency: 2.617801047120419e-4
allele num: 3820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1886T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1886T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1886T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1886T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1886T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1886T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1886T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1886T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1886T>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.127-26T>C
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/22-45603693-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603693
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603693
    reference: chr 22
allele count: 1
allele frequency: 2.621919244887258e-4
allele num: 3814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1900G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1900G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1900G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1900G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1900G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1900G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1900G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1900G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1900G>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.127-40G>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

19-39963831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963831
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963831
    reference: chr 19
allele count: 1
allele frequency: 8.319467554076538e-6
allele num: 120200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2259-12C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2247-12C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2259-12C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2247-12C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2524-12C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2259-12C>T
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

19-39963833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963833
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963833
    reference: chr 19
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2247-10G>A
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2247-10G>A
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2259-10G>A
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2259-10G>A
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2524-10G>A
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2259-10G>A
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-39963834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963834
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963834
    reference: chr 19
allele count: 4
allele frequency: 3.328063898826857e-5
allele num: 120190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2524-9C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2247-9C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2259-9C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2259-9C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2259-9C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2247-9C>T
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 34993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

19-39963840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963840
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963840
    reference: chr 19
allele count: 3
allele frequency: 2.494843989089216e-5
allele num: 120248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2247-3C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2259-3C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2259-3C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2524-3C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2247-3C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2259-3C>T
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 35190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2259-3C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-39963849-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963849
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963849
    reference: chr 19
allele count: 143
allele frequency: 1.188536852953888e-3
allele num: 120316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2265A>G
  hgvsp: ENST00000432763.2:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2265A>G
  hgvsp: ENST00000598725.1:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2253A>G
  hgvsp: ENST00000402194.2:c.2253A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2253A>G
  hgvsp: ENST00000359191.6:c.2253A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2265A>G
  hgvsp: ENST00000599117.1:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2530A>G
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10790
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser755Ser
num of homozygotes: 4
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-39963850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963850
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963850
    reference: chr 19
allele count: 2
allele frequency: 1.66237220513673e-5
allele num: 120310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2254C>T
  hgvsp: ENSP00000352117.6:p.Arg752Trp
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2266C>T
  hgvsp: ENSP00000404029.2:p.Arg756Trp
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2254C>T
  hgvsp: ENSP00000384505.2:p.Arg752Trp
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2531C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2266C>T
  hgvsp: ENSP00000470252.1:p.Arg756Trp
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2266C>T
  hgvsp: ENSP00000469090.1:p.Arg756Trp
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg756Trp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

22-45603694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45603694
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45603694
    reference: chr 22
allele count: 1
allele frequency: 2.620545073375262e-4
allele num: 3816
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.232-1901C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.115-1901C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*194-1901C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.163-1901C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.115-1901C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.127-41C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.217-1901C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.503-1901C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.318-1901C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.163-1901C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

22-45607340-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45607340
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45607340
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.162+497G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.317+497G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.216+497G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.231+497G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*193+497G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.114+497G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000477454
  ensembl transcript: ENST00000496226
  gene symbol: KIAA0930
  hgvsc: ENST00000496226.1:c.244-27G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.162+497G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.114+497G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.502+497G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000477148
  ensembl transcript: ENST00000492273
  gene symbol: KIAA0930
  hgvsc: ENST00000492273.1:c.232-27G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.126+497G>C
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

22-45607791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45607791
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45607791
    reference: chr 22
allele count: 11
allele frequency: 9.429110234870564e-5
allele num: 116660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.502+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000477454
  ensembl transcript: ENST00000496226
  gene symbol: KIAA0930
  hgvsc: ENST00000496226.1:c.243+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.216+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.114+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.162+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*193+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000477148
  ensembl transcript: ENST00000492273
  gene symbol: KIAA0930
  hgvsc: ENST00000492273.1:c.231+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.162+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.317+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.231+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.114+46C>T
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.126+46C>T
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

22-45607804-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45607804
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45607804
    reference: chr 22
allele count: 1
allele frequency: 8.555051758063135e-6
allele num: 116890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000389482
  ensembl transcript: ENST00000443310
  gene symbol: KIAA0930
  hgvsc: ENST00000443310.3:c.162+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000488038
  gene symbol: KIAA0930
  hgvsc: ENST00000488038.1:n.502+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000336720
  ensembl transcript: ENST00000336156
  gene symbol: KIAA0930
  hgvsc: ENST00000336156.5:c.216+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000403030
  ensembl transcript: ENST00000414854
  gene symbol: KIAA0930
  hgvsc: ENST00000414854.1:c.114+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl transcript: ENST00000486640
  gene symbol: KIAA0930
  hgvsc: ENST00000486640.1:n.317+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000251993
  ensembl transcript: ENST00000251993
  gene symbol: KIAA0930
  hgvsc: ENST00000251993.7:c.231+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000477454
  ensembl transcript: ENST00000496226
  gene symbol: KIAA0930
  hgvsc: ENST00000496226.1:c.243+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000395994
  ensembl transcript: ENST00000417906
  gene symbol: KIAA0930
  hgvsc: ENST00000417906.1:c.*193+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000477148
  ensembl transcript: ENST00000492273
  gene symbol: KIAA0930
  hgvsc: ENST00000492273.1:c.231+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000375485
  ensembl transcript: ENST00000391627
  gene symbol: KIAA0930
  hgvsc: ENST00000391627.2:c.114+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000402514
  ensembl transcript: ENST00000440039
  gene symbol: KIAA0930
  hgvsc: ENST00000440039.1:c.126+33G>C
  variant of: http://identifiers.org/hgnc/1314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100364
  ensembl protein: ENSP00000392752
  ensembl transcript: ENST00000424508
  gene symbol: KIAA0930
  hgvsc: ENST00000424508.1:c.162+33G>C
  variant of: http://identifiers.org/hgnc/1314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-39963851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963851
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963851
    reference: chr 19
allele count: 2
allele frequency: 1.662013030182157e-5
allele num: 120336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2267G>A
  hgvsp: ENSP00000404029.2:p.Arg756Gln
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2267G>A
  hgvsp: ENSP00000470252.1:p.Arg756Gln
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2255G>A
  hgvsp: ENSP00000384505.2:p.Arg752Gln
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2532G>A
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2255G>A
  hgvsp: ENSP00000352117.6:p.Arg752Gln
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2267G>A
  hgvsp: ENSP00000469090.1:p.Arg756Gln
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg756Gln
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

19-39963853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963853
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963853
    reference: chr 19
allele count: 2
allele frequency: 1.661736847352853e-5
allele num: 120356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2257C>T
  hgvsp: ENSP00000384505.2:p.Arg753Cys
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2269C>T
  hgvsp: ENSP00000469090.1:p.Arg757Cys
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2269C>T
  hgvsp: ENSP00000470252.1:p.Arg757Cys
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2257C>T
  hgvsp: ENSP00000352117.6:p.Arg753Cys
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2269C>T
  hgvsp: ENSP00000404029.2:p.Arg757Cys
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2534C>T
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg757Cys
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-39963854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963854
    reference: chr 19
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2270G>A
  hgvsp: ENSP00000469090.1:p.Arg757His
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2258G>A
  hgvsp: ENSP00000352117.6:p.Arg753His
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2270G>A
  hgvsp: ENSP00000470252.1:p.Arg757His
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2270G>A
  hgvsp: ENSP00000404029.2:p.Arg757His
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2535G>A
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2258G>A
  hgvsp: ENSP00000384505.2:p.Arg753His
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35538
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg757His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-39963857-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963857
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963857
    reference: chr 19
allele count: 3
allele frequency: 2.491694352159469e-5
allele num: 120400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2538C>A
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2273C>A
  hgvsp: ENSP00000469090.1:p.Pro758Gln
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2273C>A
  hgvsp: ENSP00000470252.1:p.Pro758Gln
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2261C>A
  hgvsp: ENSP00000352117.6:p.Pro754Gln
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2261C>A
  hgvsp: ENSP00000384505.2:p.Pro754Gln
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2273C>A
  hgvsp: ENSP00000404029.2:p.Pro758Gln
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro758Gln
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: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-39963857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963857
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963857
    reference: chr 19
allele count: 11
allele frequency: 9.136212624584717e-5
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2261C>T
  hgvsp: ENSP00000352117.6:p.Pro754Leu
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2273C>T
  hgvsp: ENSP00000404029.2:p.Pro758Leu
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2538C>T
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2273C>T
  hgvsp: ENSP00000470252.1:p.Pro758Leu
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2273C>T
  hgvsp: ENSP00000469090.1:p.Pro758Leu
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2261C>T
  hgvsp: ENSP00000384505.2:p.Pro754Leu
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro758Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

19-39963858-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963858
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963858
    reference: chr 19
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2274G>C
  hgvsp: ENST00000598725.1:c.2274G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2539G>C
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2262G>C
  hgvsp: ENST00000402194.2:c.2262G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2262G>C
  hgvsp: ENST00000359191.6:c.2262G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2274G>C
  hgvsp: ENST00000599117.1:c.2274G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2274G>C
  hgvsp: ENST00000432763.2:c.2274G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro758Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

19-39963858-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963858
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963858
    reference: chr 19
allele count: 6
allele frequency: 4.982561036372695e-5
allele num: 120420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2274G>T
  hgvsp: ENST00000598725.1:c.2274G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2274G>T
  hgvsp: ENST00000432763.2:c.2274G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2262G>T
  hgvsp: ENST00000402194.2:c.2262G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2262G>T
  hgvsp: ENST00000359191.6:c.2262G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2274G>T
  hgvsp: ENST00000599117.1:c.2274G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2539G>T
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23427
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro758Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-39963862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963862
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963862
    reference: chr 19
allele count: 2
allele frequency: 1.659943893896386e-5
allele num: 120486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2266G>A
  hgvsp: ENSP00000384505.2:p.Gly756Ser
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2266G>A
  hgvsp: ENSP00000352117.6:p.Gly756Ser
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2278G>A
  hgvsp: ENSP00000469090.1:p.Gly760Ser
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2278G>A
  hgvsp: ENSP00000470252.1:p.Gly760Ser
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2278G>A
  hgvsp: ENSP00000404029.2:p.Gly760Ser
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2543G>A
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly760Ser
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

19-39963871-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39963871
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39963871
    reference: chr 19
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000404029
  ensembl transcript: ENST00000432763
  gene symbol: SUPT5H
  hgvsc: ENST00000432763.2:c.2287T>A
  hgvsp: ENSP00000404029.2:p.Ser763Thr
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000470252
  ensembl transcript: ENST00000599117
  gene symbol: SUPT5H
  hgvsc: ENST00000599117.1:c.2287T>A
  hgvsp: ENSP00000470252.1:p.Ser763Thr
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196235
  ensembl transcript: ENST00000599335
  gene symbol: SUPT5H
  hgvsc: ENST00000599335.1:n.2552T>A
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000469090
  ensembl transcript: ENST00000598725
  gene symbol: SUPT5H
  hgvsc: ENST00000598725.1:c.2287T>A
  hgvsp: ENSP00000469090.1:p.Ser763Thr
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000352117
  ensembl transcript: ENST00000359191
  gene symbol: SUPT5H
  hgvsc: ENST00000359191.6:c.2275T>A
  hgvsp: ENSP00000352117.6:p.Ser759Thr
  variant of: http://identifiers.org/hgnc/11469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196235
  ensembl protein: ENSP00000384505
  ensembl transcript: ENST00000402194
  gene symbol: SUPT5H
  hgvsc: ENST00000402194.2:c.2275T>A
  hgvsp: ENSP00000384505.2:p.Ser759Thr
  variant of: http://identifiers.org/hgnc/11469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser763Thr
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21802
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.600098135426889e-5
allele num: 65216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.978e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 1.636312e6

GenotypeQuality
all individuals: 1635
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4226
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23795
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.850252867891945e-4
allele num: 16214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.648e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.662e0

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.23e-1

DP
type: SiteQuality
SIO_000300: 1.649233e6

FS
type: SiteQuality
SIO_000300: 6.943e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
all individuals: 1307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.619e1

FS
type: SiteQuality
SIO_000300: 1.623e0

VQSLOD
type: SiteQuality
SIO_000300: -2.791e0

DP
type: SiteQuality
SIO_000300: 1.665787e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

GenotypeQuality
all individuals: 4252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 546
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525599560627327e-5
allele num: 65548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.594e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 1.668428e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.468e0

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 2591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8300
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1041
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
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2941
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.152331733727083e-5
allele num: 16254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -8.587e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.673106e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

FS
type: SiteQuality
SIO_000300: 3.976e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

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

GenotypeQuality
all individuals: 4291
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4320
bin: 7.75e1
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
all individuals: 1379
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variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 7.25e1
variant carriers: 0

African
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allele count: 4
allele frequency: 3.93623302499508e-4
allele num: 10162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.69709e6

FS
type: SiteQuality
SIO_000300: 8.443e0

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

GenotypeQuality
all individuals: 32
bin: 1.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-5
allele num: 65780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.706101e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.499e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.2799e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.691e0

QD
type: SiteQuality
SIO_000300: 1.53e1

GenotypeQuality
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bin: 6.25e1
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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GenotypeQuality
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GenotypeQuality
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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
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519664458087654e-5
allele num: 65804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.710436e6

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

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 9023
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variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747030048916841e-4
allele num: 11448
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

FS
type: SiteQuality
SIO_000300: 4.647e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

DP
type: SiteQuality
SIO_000300: 1.716711e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

GenotypeQuality
all individuals: 27992
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4060
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variant carriers: 0

GenotypeQuality
all individuals: 473
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variant carriers: 0

GenotypeQuality
all individuals: 346
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variant carriers: 0

GenotypeQuality
all individuals: 628
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variant carriers: 0

GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 39
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4334
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1457
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.807767752059631e-5
allele num: 10196
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.647e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.716711e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 259
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034625072072346e-5
allele num: 65906
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.72436e6

FS
type: SiteQuality
SIO_000300: 1.0881e1

QD
type: SiteQuality
SIO_000300: 1.497e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.727982e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
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FS
type: SiteQuality
SIO_000300: 3.326e0

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.029e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 9.0e-4

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 1.733847e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.86e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

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

African
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.026268006294638e-5
allele num: 66088
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East Asian
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.955416503715291e-4
allele num: 10228
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8588
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ReadPosRankSum
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MQ
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Other
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South Asian
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BaseQRankSum
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MQ
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FS
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QD
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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European (Finnish)
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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African
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 6.040471156750227e-5
allele num: 66220
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South Asian
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Other
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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Other
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African
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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DP
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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SIO_000300: 8.35e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.757e0

DP
type: SiteQuality
SIO_000300: 1.764778e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.417e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.771145e6

FS
type: SiteQuality
SIO_000300: 3.329e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
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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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1889
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

FS
type: SiteQuality
SIO_000300: 1.318e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.771068e6

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.273e0

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 2
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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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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
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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: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.768813e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.894e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

QD
type: SiteQuality
SIO_000300: 6.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

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
all individuals: 4
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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
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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: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3803
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.028817748839453e-5
allele num: 66348
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 1.816e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.523e1

DP
type: SiteQuality
SIO_000300: 1.760919e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeDepth
all individuals: 629
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variant carriers: 0

GenotypeQuality
all individuals: 4678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
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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: 26
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 244
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variant carriers: 0

GenotypeQuality
all individuals: 6
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.139489194499017e-5
allele num: 16288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.696e0

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: -1.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 5.393e0

QD
type: SiteQuality
SIO_000300: 1.634e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.773e0

DP
type: SiteQuality
SIO_000300: 1.755278e6

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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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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GenotypeQuality
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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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bin: 8.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
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SIO_000300: -4.373e0

FS
type: SiteQuality
SIO_000300: 2.373e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.11e-1

DP
type: SiteQuality
SIO_000300: 1.752826e6

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.931e1

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
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 4

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

Latino
type: Population
allele count: 3
allele frequency: 2.600554785020804e-4
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.258e0

QD
type: SiteQuality
SIO_000300: 1.101e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 2.473e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.752948e6

GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
all individuals: 21
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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
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 922
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variant carriers: 1

GenotypeQuality
all individuals: 360
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GenotypeQuality
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GenotypeQuality
all individuals: 98
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3804
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508887346470713e-5
allele num: 66274
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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SIO_000300: 1.75072e6

ClippingRankSum
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SIO_000300: 7.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
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VQSLOD
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SIO_000300: -2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.036e1

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
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

East Asian
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allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -8.67e-1

VQSLOD
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MQ
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.111e0

BaseQRankSum
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SIO_000300: -2.578e0

ReadPosRankSum
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DP
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SIO_000300: 1.748289e6

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

South Asian
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allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 64
allele frequency: 9.663586398502144e-4
allele num: 66228
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
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QD
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ClippingRankSum
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MQ
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.389e0

DP
type: SiteQuality
SIO_000300: 1.746567e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11532
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510710940568632e-5
allele num: 66194
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10294
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.055e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.251e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 1.0234e1

DP
type: SiteQuality
SIO_000300: 1.740833e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510619656182966e-5
allele num: 66198
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

DP
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MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 6.667e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

East Asian
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Other
type: Population
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MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
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QD
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
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allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66112
num of homozygotes: 0

East Asian
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Latino
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num of homozygotes: 0

Other
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African
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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MQ
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DP
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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South Asian
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Latino
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East Asian
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FS
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QD
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 15892
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

DP
type: SiteQuality
SIO_000300: 1.723207e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.291682395872656e-5
allele num: 15894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66044
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MQRankSum
type: SiteQuality
SIO_000300: -1.399e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-3

QD
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SIO_000300: 1.002e1

InbreedingCoeff
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SIO_000300: 6.6e-3

VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

FS
type: SiteQuality
SIO_000300: 1.327e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.583e0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.324310650139134e-5
allele num: 15812
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.772e1

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 9.819000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 1.72232e6

GenotypeQuality
all individuals: 1175
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 513
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15840
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

QD
type: SiteQuality
SIO_000300: 1.1e1

FS
type: SiteQuality
SIO_000300: 7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 1.721926e6

MQ
type: SiteQuality
SIO_000300: 5.869e1

GenotypeQuality
all individuals: 876
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variant carriers: 0

GenotypeQuality
all individuals: 696
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 413
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3796
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.245e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.72192e6

FS
type: SiteQuality
SIO_000300: 2.147e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.346e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 51
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variant carriers: 9

GenotypeQuality
all individuals: 3
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variant carriers: 2

GenotypeQuality
all individuals: 25
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variant carriers: 23

GenotypeQuality
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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: 55

GenotypeQuality
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GenotypeQuality
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variant carriers: 520

GenotypeQuality
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GenotypeQuality
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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: 15

South Asian
type: Population
allele count: 8
allele frequency: 5.0e-2
allele num: 160
num of homozygotes: 1

East Asian
type: Population
allele count: 39
allele frequency: 1.095505617977528e-1
allele num: 356
num of homozygotes: 2

African
type: Population
allele count: 90
allele frequency: 1.253481894150418e-1
allele num: 718
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 7
allele frequency: 2.1875e-1
allele num: 32
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 1.944444444444444e-1
allele num: 36
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 1.326530612244898e-1
allele num: 196
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 391
allele frequency: 1.663829787234043e-1
allele num: 2350
num of homozygotes: 29

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 1.55594e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.361e1

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
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.785515320334262e-3
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2344
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
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QD
type: SiteQuality
SIO_000300: 1.427e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.007e0

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.53737e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
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SIO_000300: 5.912e1

ReadPosRankSum
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SIO_000300: 1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 160
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African
type: Population
allele count: 1
allele frequency: 1.392757660167131e-3
allele num: 718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: 6.8e-1

QD
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SIO_000300: 1.063e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.79e-2

ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 60
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2344
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.25e-3
allele num: 160
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.044e0

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.84e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.762e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

FS
type: SiteQuality
SIO_000300: 3.801e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

DP
type: SiteQuality
SIO_000300: 1.52994e5

MQ
type: SiteQuality
SIO_000300: 5.789e1

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 10

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 67
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 219
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 437
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1287
bin: 9.75e1
variant carriers: 391

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 52
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 119
bin: 6.75e1
variant carriers: 2

African
type: Population
allele count: 40
allele frequency: 5.555555555555555e-2
allele num: 720
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 5.555555555555555e-2
allele num: 36
num of homozygotes: 0

East Asian
type: Population
allele count: 62
allele frequency: 1.751412429378531e-1
allele num: 354
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 8
allele frequency: 2.666666666666667e-1
allele num: 30
num of homozygotes: 1

Latino
type: Population
allele count: 16
allele frequency: 8.163265306122448e-2
allele num: 196
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 284
allele frequency: 1.214713430282293e-1
allele num: 2338
num of homozygotes: 19

South Asian
type: Population
allele count: 11
allele frequency: 6.875000000000001e-2
allele num: 160
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.60883e5

FS
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
all individuals: 2503
bin: 7.5e0
variant carriers: 48

GenotypeQuality
all individuals: 132
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 69
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 15

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 17

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1217
bin: 9.75e1
variant carriers: 523

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 274
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 56
bin: 7.25e1
variant carriers: 1

African
type: Population
allele count: 90
allele frequency: 1.253481894150418e-1
allele num: 718
num of homozygotes: 3

Other
type: Population
allele count: 7
allele frequency: 1.944444444444444e-1
allele num: 36
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 2.0e-1
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.0e-2
allele num: 160
num of homozygotes: 1

East Asian
type: Population
allele count: 38
allele frequency: 1.073446327683616e-1
allele num: 354
num of homozygotes: 2

Latino
type: Population
allele count: 27
allele frequency: 1.363636363636364e-1
allele num: 198
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 393
allele frequency: 1.676621160409556e-1
allele num: 2344
num of homozygotes: 29

VQSLOD
type: SiteQuality
SIO_000300: 6.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.27e-2

DP
type: SiteQuality
SIO_000300: 1.5301e5

QD
type: SiteQuality
SIO_000300: 1.397e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 327
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.25827e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.79e-2

QD
type: SiteQuality
SIO_000300: 7.59e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 169
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.824858757062147e-3
allele num: 354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 1.057e1

FS
type: SiteQuality
SIO_000300: 4.876e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.25534e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.575e0

VQSLOD
type: SiteQuality
SIO_000300: -1.459e0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.29553264604811e-4
allele num: 2328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.25019e5

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.824858757062147e-3
allele num: 354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: -1.727e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

FS
type: SiteQuality
SIO_000300: 4.589e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.33e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.24413e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.03e-2

GenotypeQuality
all individuals: 10763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 299
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514646632940535e-5
allele num: 66022
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.492e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

FS
type: SiteQuality
SIO_000300: 2.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

DP
type: SiteQuality
SIO_000300: 1.75133e6

QD
type: SiteQuality
SIO_000300: 3.156e1

VQSLOD
type: SiteQuality
SIO_000300: -2.17e0

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-5
allele num: 66020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.438e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

FS
type: SiteQuality
SIO_000300: 1.854e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

DP
type: SiteQuality
SIO_000300: 1.751359e6

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

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3748
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.607335303320007e-4
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-5
allele num: 66020
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.751714e6

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.332e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

FS
type: SiteQuality
SIO_000300: 5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 3742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.523e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

FS
type: SiteQuality
SIO_000300: 1.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.752769e6

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 2.437e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

GenotypeQuality
all individuals: 219
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
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GenotypeQuality
all individuals: 2286
bin: 9.75e1
variant carriers: 139

GenotypeQuality
all individuals: 571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
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variant carriers: 0

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

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.844457570387872e-5
allele num: 10158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66124
num of homozygotes: 0

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

South Asian
type: Population
allele count: 138
allele frequency: 8.371754428536764e-3
allele num: 16484
num of homozygotes: 4

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

FS
type: SiteQuality
SIO_000300: 1.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.53e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.836e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.758817e6

QD
type: SiteQuality
SIO_000300: 1.285e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

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

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3747
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variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024620410138528e-5
allele num: 66124
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.752788e6

FS
type: SiteQuality
SIO_000300: 7.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.349e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.833e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

QD
type: SiteQuality
SIO_000300: 6.01e0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2375
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GenotypeQuality
all individuals: 18
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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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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.302925989672978e-4
allele num: 2324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.114e0

QD
type: SiteQuality
SIO_000300: 1.444e1

FS
type: SiteQuality
SIO_000300: 1.328e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.07e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.24466e5

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
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
all individuals: 2521
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variant carriers: 2

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.076e-1

DP
type: SiteQuality
SIO_000300: 7.413e3

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.855e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 32387
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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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 53
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GenotypeQuality
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bin: 9.75e1
variant carriers: 10

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.706431696193106e-4
allele num: 64462
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.295e1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.535e0

FS
type: SiteQuality
SIO_000300: 1.127e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

DP
type: SiteQuality
SIO_000300: 1.683664e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

GenotypeDepth
all individuals: 1947
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 407
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variant carriers: 0

GenotypeQuality
all individuals: 115
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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
all individuals: 379
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3032
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14862
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.171234481143125e-4
allele num: 8538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 3.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.785e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.692119e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 268
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GenotypeQuality
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GenotypeQuality
all individuals: 2145
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variant carriers: 2

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511852926947267e-5
allele num: 66144
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

QD
type: SiteQuality
SIO_000300: 1.541e1

DP
type: SiteQuality
SIO_000300: 1.752699e6

GenotypeQuality
all individuals: 1909
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 844
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.968503937007874e-4
allele num: 10160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 7.698e0

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.752976e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 844
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

DP
type: SiteQuality
SIO_000300: 1.753323e6

VQSLOD
type: SiteQuality
SIO_000300: -2.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 3.825e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

GenotypeQuality
all individuals: 203
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 842
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.510414228879008e-4
allele num: 8546
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 4.318e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.754262e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 10831
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35643
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.510414228879008e-4
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.246026931942254e-4
allele num: 16486
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.754262e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

FS
type: SiteQuality
SIO_000300: 4.318e0

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 35697
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10860
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510710940568632e-5
allele num: 66194
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.815e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.754089e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.06426564341179e-5
allele num: 66194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.754089e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 1.815e0

QD
type: SiteQuality
SIO_000300: 1.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35863
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019597185735423e-5
allele num: 66234
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 3.929e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.2e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.754935e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0