21-27269878-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27269878
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 27269878
    reference: chr 21
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000351796
  ensembl transcript: ENST00000358918
  gene symbol: APP
  hgvsc: ENST00000358918.3:c.2010+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000387483
  ensembl transcript: ENST00000440126
  gene symbol: APP
  hgvsc: ENST00000440126.3:c.1992+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000345463
  ensembl transcript: ENST00000348990
  gene symbol: APP
  hgvsc: ENST00000348990.5:c.1839+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000284981
  ensembl transcript: ENST00000346798
  gene symbol: APP
  hgvsc: ENST00000346798.3:c.2064+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000346129
  ensembl transcript: ENST00000354192
  gene symbol: APP
  hgvsc: ENST00000354192.3:c.1671+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000350578
  ensembl transcript: ENST00000357903
  gene symbol: APP
  hgvsc: ENST00000357903.3:c.2007+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000397795
  ensembl transcript: ENST00000456209
  gene symbol: APP
  hgvsc: ENST00000456209.2:c.771+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000388538
  ensembl transcript: ENST00000448388
  gene symbol: APP
  hgvsc: ENST00000448388.2:c.1734+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000398879
  ensembl transcript: ENST00000439274
  gene symbol: APP
  hgvsc: ENST00000439274.2:c.1896+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl transcript: ENST00000464867
  gene symbol: APP
  hgvsc: ENST00000464867.1:n.411+7A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000352760
  ensembl transcript: ENST00000359726
  gene symbol: APP
  hgvsc: ENST00000359726.3:c.1896+7A>G
  variant of: http://identifiers.org/hgnc/620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2064+7A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-42288334-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288334
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288334
    reference: chr 17
allele count: 1
allele frequency: 9.139097057210747e-6
allele num: 109420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1093-19A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1204-19A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431295
  ensembl transcript: ENST00000529373
  gene symbol: UBTF
  hgvsc: ENST00000529373.1:c.-55A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5125T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1093-19A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1204-19A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1093-19A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1204-19A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1093-19A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1093-19A>G
  variant of: http://identifiers.org/hgnc/12511
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6269
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

17-42288350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288350
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288350
    reference: chr 17
allele count: 1
allele frequency: 8.851594172110397e-6
allele num: 112974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1093-35G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1204-35G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431295
  ensembl transcript: ENST00000529373
  gene symbol: UBTF
  hgvsc: ENST00000529373.1:c.-71G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1093-35G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1093-35G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1204-35G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5109C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1093-35G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1204-35G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1093-35G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-42288352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288352
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288352
    reference: chr 17
allele count: 36
allele frequency: 3.178583411326352e-4
allele num: 113258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1093-37C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1093-37C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1204-37C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1093-37C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431295
  ensembl transcript: ENST00000529373
  gene symbol: UBTF
  hgvsc: ENST00000529373.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1093-37C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5107G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1093-37C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1204-37C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1204-37C>T
  variant of: http://identifiers.org/hgnc/12511
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35264
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

21-27269880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27269880
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 27269880
    reference: chr 21
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000397795
  ensembl transcript: ENST00000456209
  gene symbol: APP
  hgvsc: ENST00000456209.2:c.771+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000345463
  ensembl transcript: ENST00000348990
  gene symbol: APP
  hgvsc: ENST00000348990.5:c.1839+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000284981
  ensembl transcript: ENST00000346798
  gene symbol: APP
  hgvsc: ENST00000346798.3:c.2064+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl transcript: ENST00000464867
  gene symbol: APP
  hgvsc: ENST00000464867.1:n.411+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000388538
  ensembl transcript: ENST00000448388
  gene symbol: APP
  hgvsc: ENST00000448388.2:c.1734+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000346129
  ensembl transcript: ENST00000354192
  gene symbol: APP
  hgvsc: ENST00000354192.3:c.1671+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000387483
  ensembl transcript: ENST00000440126
  gene symbol: APP
  hgvsc: ENST00000440126.3:c.1992+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000350578
  ensembl transcript: ENST00000357903
  gene symbol: APP
  hgvsc: ENST00000357903.3:c.2007+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000351796
  ensembl transcript: ENST00000358918
  gene symbol: APP
  hgvsc: ENST00000358918.3:c.2010+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000398879
  ensembl transcript: ENST00000439274
  gene symbol: APP
  hgvsc: ENST00000439274.2:c.1896+5G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000352760
  ensembl transcript: ENST00000359726
  gene symbol: APP
  hgvsc: ENST00000359726.3:c.1896+5G>A
  variant of: http://identifiers.org/hgnc/620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2064+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-27269881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27269881
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 27269881
    reference: chr 21
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl transcript: ENST00000464867
  gene symbol: APP
  hgvsc: ENST00000464867.1:n.411+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000388538
  ensembl transcript: ENST00000448388
  gene symbol: APP
  hgvsc: ENST00000448388.2:c.1734+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000352760
  ensembl transcript: ENST00000359726
  gene symbol: APP
  hgvsc: ENST00000359726.3:c.1896+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000397795
  ensembl transcript: ENST00000456209
  gene symbol: APP
  hgvsc: ENST00000456209.2:c.771+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000351796
  ensembl transcript: ENST00000358918
  gene symbol: APP
  hgvsc: ENST00000358918.3:c.2010+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000387483
  ensembl transcript: ENST00000440126
  gene symbol: APP
  hgvsc: ENST00000440126.3:c.1992+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000284981
  ensembl transcript: ENST00000346798
  gene symbol: APP
  hgvsc: ENST00000346798.3:c.2064+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000345463
  ensembl transcript: ENST00000348990
  gene symbol: APP
  hgvsc: ENST00000348990.5:c.1839+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000398879
  ensembl transcript: ENST00000439274
  gene symbol: APP
  hgvsc: ENST00000439274.2:c.1896+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000346129
  ensembl transcript: ENST00000354192
  gene symbol: APP
  hgvsc: ENST00000354192.3:c.1671+4C>T
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000350578
  ensembl transcript: ENST00000357903
  gene symbol: APP
  hgvsc: ENST00000357903.3:c.2007+4C>T
  variant of: http://identifiers.org/hgnc/620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2064+4C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

21-27269895-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27269895
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 27269895
    reference: chr 21
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000351796
  ensembl transcript: ENST00000358918
  gene symbol: APP
  hgvsc: ENST00000358918.3:c.2000A>G
  hgvsp: ENSP00000351796.3:p.His667Arg
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000388538
  ensembl transcript: ENST00000448388
  gene symbol: APP
  hgvsc: ENST00000448388.2:c.1724A>G
  hgvsp: ENSP00000388538.2:p.His575Arg
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000350578
  ensembl transcript: ENST00000357903
  gene symbol: APP
  hgvsc: ENST00000357903.3:c.1997A>G
  hgvsp: ENSP00000350578.3:p.His666Arg
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000397795
  ensembl transcript: ENST00000456209
  gene symbol: APP
  hgvsc: ENST00000456209.2:c.761A>G
  hgvsp: ENSP00000397795.2:p.His254Arg
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000352760
  ensembl transcript: ENST00000359726
  gene symbol: APP
  hgvsc: ENST00000359726.3:c.1886A>G
  hgvsp: ENSP00000352760.3:p.His629Arg
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000387483
  ensembl transcript: ENST00000440126
  gene symbol: APP
  hgvsc: ENST00000440126.3:c.1982A>G
  hgvsp: ENSP00000387483.2:p.His661Arg
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000346129
  ensembl transcript: ENST00000354192
  gene symbol: APP
  hgvsc: ENST00000354192.3:c.1661A>G
  hgvsp: ENSP00000346129.3:p.His554Arg
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142192
  ensembl transcript: ENST00000464867
  gene symbol: APP
  hgvsc: ENST00000464867.1:n.401A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000398879
  ensembl transcript: ENST00000439274
  gene symbol: APP
  hgvsc: ENST00000439274.2:c.1886A>G
  hgvsp: ENSP00000398879.2:p.His629Arg
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000284981
  ensembl transcript: ENST00000346798
  gene symbol: APP
  hgvsc: ENST00000346798.3:c.2054A>G
  hgvsp: ENSP00000284981.4:p.His685Arg
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000345463
  ensembl transcript: ENST00000348990
  gene symbol: APP
  hgvsc: ENST00000348990.5:c.1829A>G
  hgvsp: ENSP00000345463.5:p.His610Arg
  variant of: http://identifiers.org/hgnc/620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His685Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-27269900-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27269900
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 27269900
    reference: chr 21
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000351796
  ensembl transcript: ENST00000358918
  gene symbol: APP
  hgvsc: ENST00000358918.3:c.1995T>A
  hgvsp: ENST00000358918.3:c.1995T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000398879
  ensembl transcript: ENST00000439274
  gene symbol: APP
  hgvsc: ENST00000439274.2:c.1881T>A
  hgvsp: ENST00000439274.2:c.1881T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000352760
  ensembl transcript: ENST00000359726
  gene symbol: APP
  hgvsc: ENST00000359726.3:c.1881T>A
  hgvsp: ENST00000359726.3:c.1881T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142192
  ensembl transcript: ENST00000464867
  gene symbol: APP
  hgvsc: ENST00000464867.1:n.396T>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000350578
  ensembl transcript: ENST00000357903
  gene symbol: APP
  hgvsc: ENST00000357903.3:c.1992T>A
  hgvsp: ENST00000357903.3:c.1992T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000388538
  ensembl transcript: ENST00000448388
  gene symbol: APP
  hgvsc: ENST00000448388.2:c.1719T>A
  hgvsp: ENST00000448388.2:c.1719T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000397795
  ensembl transcript: ENST00000456209
  gene symbol: APP
  hgvsc: ENST00000456209.2:c.756T>A
  hgvsp: ENST00000456209.2:c.756T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000346129
  ensembl transcript: ENST00000354192
  gene symbol: APP
  hgvsc: ENST00000354192.3:c.1656T>A
  hgvsp: ENST00000354192.3:c.1656T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000387483
  ensembl transcript: ENST00000440126
  gene symbol: APP
  hgvsc: ENST00000440126.3:c.1977T>A
  hgvsp: ENST00000440126.3:c.1977T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000345463
  ensembl transcript: ENST00000348990
  gene symbol: APP
  hgvsc: ENST00000348990.5:c.1824T>A
  hgvsp: ENST00000348990.5:c.1824T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000284981
  ensembl transcript: ENST00000346798
  gene symbol: APP
  hgvsc: ENST00000346798.3:c.2049T>A
  hgvsp: ENST00000346798.3:c.2049T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val683Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

21-27269902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27269902
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 27269902
    reference: chr 21
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000351796
  ensembl transcript: ENST00000358918
  gene symbol: APP
  hgvsc: ENST00000358918.3:c.1993G>A
  hgvsp: ENSP00000351796.3:p.Val665Ile
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000387483
  ensembl transcript: ENST00000440126
  gene symbol: APP
  hgvsc: ENST00000440126.3:c.1975G>A
  hgvsp: ENSP00000387483.2:p.Val659Ile
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142192
  ensembl transcript: ENST00000464867
  gene symbol: APP
  hgvsc: ENST00000464867.1:n.394G>A
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000346129
  ensembl transcript: ENST00000354192
  gene symbol: APP
  hgvsc: ENST00000354192.3:c.1654G>A
  hgvsp: ENSP00000346129.3:p.Val552Ile
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000398879
  ensembl transcript: ENST00000439274
  gene symbol: APP
  hgvsc: ENST00000439274.2:c.1879G>A
  hgvsp: ENSP00000398879.2:p.Val627Ile
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000350578
  ensembl transcript: ENST00000357903
  gene symbol: APP
  hgvsc: ENST00000357903.3:c.1990G>A
  hgvsp: ENSP00000350578.3:p.Val664Ile
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000388538
  ensembl transcript: ENST00000448388
  gene symbol: APP
  hgvsc: ENST00000448388.2:c.1717G>A
  hgvsp: ENSP00000388538.2:p.Val573Ile
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000284981
  ensembl transcript: ENST00000346798
  gene symbol: APP
  hgvsc: ENST00000346798.3:c.2047G>A
  hgvsp: ENSP00000284981.4:p.Val683Ile
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000352760
  ensembl transcript: ENST00000359726
  gene symbol: APP
  hgvsc: ENST00000359726.3:c.1879G>A
  hgvsp: ENSP00000352760.3:p.Val627Ile
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000397795
  ensembl transcript: ENST00000456209
  gene symbol: APP
  hgvsc: ENST00000456209.2:c.754G>A
  hgvsp: ENSP00000397795.2:p.Val252Ile
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000345463
  ensembl transcript: ENST00000348990
  gene symbol: APP
  hgvsc: ENST00000348990.5:c.1822G>A
  hgvsp: ENSP00000345463.5:p.Val608Ile
  variant of: http://identifiers.org/hgnc/620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val683Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

21-27269910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27269910
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 27269910
    reference: chr 21
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000351796
  ensembl transcript: ENST00000358918
  gene symbol: APP
  hgvsc: ENST00000358918.3:c.1985G>A
  hgvsp: ENSP00000351796.3:p.Gly662Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000397795
  ensembl transcript: ENST00000456209
  gene symbol: APP
  hgvsc: ENST00000456209.2:c.746G>A
  hgvsp: ENSP00000397795.2:p.Gly249Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000387483
  ensembl transcript: ENST00000440126
  gene symbol: APP
  hgvsc: ENST00000440126.3:c.1967G>A
  hgvsp: ENSP00000387483.2:p.Gly656Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000284981
  ensembl transcript: ENST00000346798
  gene symbol: APP
  hgvsc: ENST00000346798.3:c.2039G>A
  hgvsp: ENSP00000284981.4:p.Gly680Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000398879
  ensembl transcript: ENST00000439274
  gene symbol: APP
  hgvsc: ENST00000439274.2:c.1871G>A
  hgvsp: ENSP00000398879.2:p.Gly624Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000346129
  ensembl transcript: ENST00000354192
  gene symbol: APP
  hgvsc: ENST00000354192.3:c.1646G>A
  hgvsp: ENSP00000346129.3:p.Gly549Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000350578
  ensembl transcript: ENST00000357903
  gene symbol: APP
  hgvsc: ENST00000357903.3:c.1982G>A
  hgvsp: ENSP00000350578.3:p.Gly661Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000388538
  ensembl transcript: ENST00000448388
  gene symbol: APP
  hgvsc: ENST00000448388.2:c.1709G>A
  hgvsp: ENSP00000388538.2:p.Gly570Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000352760
  ensembl transcript: ENST00000359726
  gene symbol: APP
  hgvsc: ENST00000359726.3:c.1871G>A
  hgvsp: ENSP00000352760.3:p.Gly624Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000345463
  ensembl transcript: ENST00000348990
  gene symbol: APP
  hgvsc: ENST00000348990.5:c.1814G>A
  hgvsp: ENSP00000345463.5:p.Gly605Glu
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142192
  ensembl transcript: ENST00000464867
  gene symbol: APP
  hgvsc: ENST00000464867.1:n.386G>A
  variant of: http://identifiers.org/hgnc/620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly680Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-27269921-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27269921
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 27269921
    reference: chr 21
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000284981
  ensembl transcript: ENST00000346798
  gene symbol: APP
  hgvsc: ENST00000346798.3:c.2028A>G
  hgvsp: ENST00000346798.3:c.2028A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000387483
  ensembl transcript: ENST00000440126
  gene symbol: APP
  hgvsc: ENST00000440126.3:c.1956A>G
  hgvsp: ENST00000440126.3:c.1956A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000397795
  ensembl transcript: ENST00000456209
  gene symbol: APP
  hgvsc: ENST00000456209.2:c.735A>G
  hgvsp: ENST00000456209.2:c.735A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000388538
  ensembl transcript: ENST00000448388
  gene symbol: APP
  hgvsc: ENST00000448388.2:c.1698A>G
  hgvsp: ENST00000448388.2:c.1698A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000352760
  ensembl transcript: ENST00000359726
  gene symbol: APP
  hgvsc: ENST00000359726.3:c.1860A>G
  hgvsp: ENST00000359726.3:c.1860A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000351796
  ensembl transcript: ENST00000358918
  gene symbol: APP
  hgvsc: ENST00000358918.3:c.1974A>G
  hgvsp: ENST00000358918.3:c.1974A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000345463
  ensembl transcript: ENST00000348990
  gene symbol: APP
  hgvsc: ENST00000348990.5:c.1803A>G
  hgvsp: ENST00000348990.5:c.1803A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142192
  ensembl transcript: ENST00000464867
  gene symbol: APP
  hgvsc: ENST00000464867.1:n.375A>G
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000398879
  ensembl transcript: ENST00000439274
  gene symbol: APP
  hgvsc: ENST00000439274.2:c.1860A>G
  hgvsp: ENST00000439274.2:c.1860A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000350578
  ensembl transcript: ENST00000357903
  gene symbol: APP
  hgvsc: ENST00000357903.3:c.1971A>G
  hgvsp: ENST00000357903.3:c.1971A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142192
  ensembl protein: ENSP00000346129
  ensembl transcript: ENST00000354192
  gene symbol: APP
  hgvsc: ENST00000354192.3:c.1635A>G
  hgvsp: ENST00000354192.3:c.1635A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg676Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-42288376-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288376
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288376
    reference: chr 17
allele count: 1
allele frequency: 8.681007691372814e-6
allele num: 115194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+31G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+31G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+31G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+31G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+31G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5083C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+31G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+31G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+31G>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-42288379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288379
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288379
    reference: chr 17
allele count: 2
allele frequency: 1.73271186734358e-5
allele num: 115426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+28G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5080C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+28G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+28G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+28G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+28G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+28G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+28G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+28G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36733
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-42288382-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288382
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288382
    reference: chr 17
allele count: 1
allele frequency: 8.634385577122331e-6
allele num: 115816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+25G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+25G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+25G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+25G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+25G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+25G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+25G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5077C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+25G>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

17-42288385-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288385
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288385
    reference: chr 17
allele count: 1
allele frequency: 8.631106507854307e-6
allele num: 115860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+22G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+22G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+22G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+22G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+22G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+22G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+22G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5074C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+22G>C
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-42288385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288385
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288385
    reference: chr 17
allele count: 1
allele frequency: 8.631106507854307e-6
allele num: 115860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+22G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+22G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5074C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+22G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+22G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+22G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+22G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+22G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+22G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6802
  bin: 6.75e1
  variant carriers: 0
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: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-42288386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288386
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288386
    reference: chr 17
allele count: 12
allele frequency: 1.033698573495969e-4
allele num: 116088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+21C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+21C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5073G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+21C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+21C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+21C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+21C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+21C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+21C>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37367
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-42288387-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288387
    reference: chr 17
allele count: 1
allele frequency: 8.616232982939859e-6
allele num: 116060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5072C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+20G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+20G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+20G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+20G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+20G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+20G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+20G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+20G>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

17-42288388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288388
    reference: chr 17
allele count: 775
allele frequency: 6.657389272583582e-3
allele num: 116412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+19C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+19C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+19C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+19C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+19C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+19C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+19C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5071G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+19C>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 1.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 35465
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37240
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 18
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-42288391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288391
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288391
    reference: chr 17
allele count: 3
allele frequency: 2.573649263078428e-5
allele num: 116566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+16G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+16G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5068C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+16G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+16G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+16G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+16G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+16G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+16G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-42288392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288392
    reference: chr 17
allele count: 3
allele frequency: 2.573516796486292e-5
allele num: 116572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+15C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+15C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+15C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+15C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+15C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+15C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5067G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+15C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+15C>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-42288392-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288392
    reference: chr 17
allele count: 1
allele frequency: 8.578389321620972e-6
allele num: 116572
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5067G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+15C>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+15C>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+15C>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+15C>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+15C>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+15C>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+15C>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+15C>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-42288393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288393
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288393
    reference: chr 17
allele count: 3
allele frequency: 2.568405191603027e-5
allele num: 116804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+14G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+14G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+14G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5066C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+14G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+14G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+14G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+14G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+14G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37634
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-42288399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288399
    reference: chr 17
allele count: 3
allele frequency: 2.55732674111329e-5
allele num: 117310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+8G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+8G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+8G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+8G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5060C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+8G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+8G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+8G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+8G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1203+8G>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-42288402-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288402
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288402
    reference: chr 17
allele count: 1
allele frequency: 8.517597356137781e-6
allele num: 117404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1092+5G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1203+5G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1092+5G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5057C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1203+5G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1203+5G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1092+5G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1092+5G>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1092+5G>C
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1203+5G>C
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-42288414-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288414
    reference: chr 17
allele count: 1
allele frequency: 8.456373568758774e-6
allele num: 118254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1196G>T
  hgvsp: ENSP00000435708.1:p.Gly399Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1085G>T
  hgvsp: ENSP00000345297.5:p.Gly362Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1085G>T
  hgvsp: ENSP00000431539.1:p.Gly362Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1196G>T
  hgvsp: ENSP00000302640.4:p.Gly399Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1085G>T
  hgvsp: ENSP00000437180.1:p.Gly362Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1085G>T
  hgvsp: ENSP00000377231.3:p.Gly362Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1196G>T
  hgvsp: ENSP00000390669.1:p.Gly399Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1085G>T
  hgvsp: ENSP00000432925.1:p.Gly362Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5045C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly399Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-42288416-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288416
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288416
    reference: chr 17
allele count: 4
allele frequency: 3.379919895898467e-5
allele num: 118346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1083A>G
  hgvsp: ENST00000526094.1:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1194A>G
  hgvsp: ENST00000302904.4:c.1194A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1083A>G
  hgvsp: ENST00000343638.5:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5043T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1083A>G
  hgvsp: ENST00000533177.1:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1083A>G
  hgvsp: ENST00000393606.3:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1194A>G
  hgvsp: ENST00000436088.1:c.1194A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1194A>G
  hgvsp: ENST00000529383.1:c.1194A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1083A>G
  hgvsp: ENST00000527034.1:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu398Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

17-42288420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288420
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288420
    reference: chr 17
allele count: 1
allele frequency: 8.429855175088092e-6
allele num: 118626
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1190A>G
  hgvsp: ENSP00000302640.4:p.Gln397Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1190A>G
  hgvsp: ENSP00000435708.1:p.Gln397Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1079A>G
  hgvsp: ENSP00000345297.5:p.Gln360Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5039T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1190A>G
  hgvsp: ENSP00000390669.1:p.Gln397Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1079A>G
  hgvsp: ENSP00000432925.1:p.Gln360Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1079A>G
  hgvsp: ENSP00000431539.1:p.Gln360Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1079A>G
  hgvsp: ENSP00000377231.3:p.Gln360Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1079A>G
  hgvsp: ENSP00000437180.1:p.Gln360Arg
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln397Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

17-42288422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288422
    reference: chr 17
allele count: 1
allele frequency: 8.422471153036301e-6
allele num: 118730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1188C>T
  hgvsp: ENST00000529383.1:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1077C>T
  hgvsp: ENST00000527034.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1077C>T
  hgvsp: ENST00000526094.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1188C>T
  hgvsp: ENST00000302904.4:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1077C>T
  hgvsp: ENST00000393606.3:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1077C>T
  hgvsp: ENST00000343638.5:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1077C>T
  hgvsp: ENST00000533177.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1188C>T
  hgvsp: ENST00000436088.1:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5037G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala396Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-42288424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288424
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288424
    reference: chr 17
allele count: 43
allele frequency: 3.618675732992224e-4
allele num: 118828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1186G>A
  hgvsp: ENSP00000435708.1:p.Ala396Thr
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1075G>A
  hgvsp: ENSP00000345297.5:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1075G>A
  hgvsp: ENSP00000377231.3:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1186G>A
  hgvsp: ENSP00000302640.4:p.Ala396Thr
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1075G>A
  hgvsp: ENSP00000432925.1:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1075G>A
  hgvsp: ENSP00000437180.1:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1075G>A
  hgvsp: ENSP00000431539.1:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1186G>A
  hgvsp: ENSP00000390669.1:p.Ala396Thr
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5035C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala396Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-42288434-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288434
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288434
    reference: chr 17
allele count: 1
allele frequency: 8.38447865311735e-6
allele num: 119268
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1176C>G
  hgvsp: ENST00000302904.4:c.1176C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1176C>G
  hgvsp: ENST00000529383.1:c.1176C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1065C>G
  hgvsp: ENST00000343638.5:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1065C>G
  hgvsp: ENST00000393606.3:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1176C>G
  hgvsp: ENST00000436088.1:c.1176C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1065C>G
  hgvsp: ENST00000533177.1:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5025G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1065C>G
  hgvsp: ENST00000526094.1:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1065C>G
  hgvsp: ENST00000527034.1:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser392Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-42288437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288437
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288437
    reference: chr 17
allele count: 1
allele frequency: 8.381808123648433e-6
allele num: 119306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1062C>T
  hgvsp: ENST00000533177.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1173C>T
  hgvsp: ENST00000436088.1:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1062C>T
  hgvsp: ENST00000393606.3:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1173C>T
  hgvsp: ENST00000302904.4:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1173C>T
  hgvsp: ENST00000529383.1:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1062C>T
  hgvsp: ENST00000343638.5:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5022G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1062C>T
  hgvsp: ENST00000526094.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1062C>T
  hgvsp: ENST00000527034.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala391Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-42288440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288440
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288440
    reference: chr 17
allele count: 1
allele frequency: 8.372965369415233e-6
allele num: 119432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1059C>T
  hgvsp: ENST00000393606.3:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1170C>T
  hgvsp: ENST00000436088.1:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1170C>T
  hgvsp: ENST00000529383.1:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1059C>T
  hgvsp: ENST00000533177.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1059C>T
  hgvsp: ENST00000343638.5:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1170C>T
  hgvsp: ENST00000302904.4:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1059C>T
  hgvsp: ENST00000526094.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1059C>T
  hgvsp: ENST00000527034.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5019G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40325
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro390Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-42288443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288443
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288443
    reference: chr 17
allele count: 1
allele frequency: 8.365820603342981e-6
allele num: 119534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1056C>T
  hgvsp: ENST00000533177.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1167C>T
  hgvsp: ENST00000529383.1:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1056C>T
  hgvsp: ENST00000526094.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1167C>T
  hgvsp: ENST00000302904.4:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1056C>T
  hgvsp: ENST00000393606.3:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1056C>T
  hgvsp: ENST00000527034.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5016G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1167C>T
  hgvsp: ENST00000436088.1:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1056C>T
  hgvsp: ENST00000343638.5:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser389Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

17-42288447-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288447
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288447
    reference: chr 17
allele count: 3
allele frequency: 2.50731299623903e-5
allele num: 119650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1052C>A
  hgvsp: ENSP00000377231.3:p.Thr351Asn
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1052C>A
  hgvsp: ENSP00000437180.1:p.Thr351Asn
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1052C>A
  hgvsp: ENSP00000345297.5:p.Thr351Asn
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5012G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1163C>A
  hgvsp: ENSP00000302640.4:p.Thr388Asn
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1052C>A
  hgvsp: ENSP00000432925.1:p.Thr351Asn
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1163C>A
  hgvsp: ENSP00000435708.1:p.Thr388Asn
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1052C>A
  hgvsp: ENSP00000431539.1:p.Thr351Asn
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1163C>A
  hgvsp: ENSP00000390669.1:p.Thr388Asn
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr388Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-42288451-CCTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288451
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288448
    reference: chr 17
allele count: 1
allele frequency: 8.355335717389125e-6
allele num: 119684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1045_1047delCAG
  hgvsp: ENSP00000431539.1:p.Gln349del
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1156_1158delCAG
  hgvsp: ENSP00000390669.1:p.Gln386del
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1156_1158delCAG
  hgvsp: ENSP00000435708.1:p.Gln386del
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1045_1047delCAG
  hgvsp: ENSP00000345297.5:p.Gln349del
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5005_54-5003delGCT
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1156_1158delCAG
  hgvsp: ENSP00000302640.4:p.Gln386del
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1045_1047delCAG
  hgvsp: ENSP00000432925.1:p.Gln349del
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1045_1047delCAG
  hgvsp: ENSP00000377231.3:p.Gln349del
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1045_1047delCAG
  hgvsp: ENSP00000437180.1:p.Gln349del
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln386del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: CCTG
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-42288453-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288453
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288453
    reference: chr 17
allele count: 2
allele frequency: 1.669950903443439e-5
allele num: 119764
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-5006T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1046A>G
  hgvsp: ENSP00000437180.1:p.Gln349Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1157A>G
  hgvsp: ENSP00000435708.1:p.Gln386Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1157A>G
  hgvsp: ENSP00000390669.1:p.Gln386Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1046A>G
  hgvsp: ENSP00000377231.3:p.Gln349Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1046A>G
  hgvsp: ENSP00000432925.1:p.Gln349Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1157A>G
  hgvsp: ENSP00000302640.4:p.Gln386Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1046A>G
  hgvsp: ENSP00000345297.5:p.Gln349Arg
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1046A>G
  hgvsp: ENSP00000431539.1:p.Gln349Arg
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln386Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

17-42288464-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288464
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288464
    reference: chr 17
allele count: 1
allele frequency: 8.337641114575865e-6
allele num: 119938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1035C>A
  hgvsp: ENST00000343638.5:c.1035C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1146C>A
  hgvsp: ENST00000436088.1:c.1146C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1146C>A
  hgvsp: ENST00000529383.1:c.1146C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1146C>A
  hgvsp: ENST00000302904.4:c.1146C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1035C>A
  hgvsp: ENST00000527034.1:c.1035C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1035C>A
  hgvsp: ENST00000393606.3:c.1035C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4995G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1035C>A
  hgvsp: ENST00000533177.1:c.1035C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1035C>A
  hgvsp: ENST00000526094.1:c.1035C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile382Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-42288466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288466
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288466
    reference: chr 17
allele count: 7
allele frequency: 5.83450023338001e-5
allele num: 119976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1144A>G
  hgvsp: ENSP00000390669.1:p.Ile382Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4993T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1144A>G
  hgvsp: ENSP00000302640.4:p.Ile382Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1033A>G
  hgvsp: ENSP00000431539.1:p.Ile345Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1033A>G
  hgvsp: ENSP00000345297.5:p.Ile345Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1033A>G
  hgvsp: ENSP00000377231.3:p.Ile345Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1144A>G
  hgvsp: ENSP00000435708.1:p.Ile382Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1033A>G
  hgvsp: ENSP00000432925.1:p.Ile345Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1033A>G
  hgvsp: ENSP00000437180.1:p.Ile345Val
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile382Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

17-42288490-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288490
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288490
    reference: chr 17
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4969A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1009T>C
  hgvsp: ENST00000527034.1:c.1009T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1009T>C
  hgvsp: ENST00000343638.5:c.1009T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1009T>C
  hgvsp: ENST00000526094.1:c.1009T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1009T>C
  hgvsp: ENST00000533177.1:c.1009T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1009T>C
  hgvsp: ENST00000393606.3:c.1009T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1120T>C
  hgvsp: ENST00000529383.1:c.1120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1120T>C
  hgvsp: ENST00000302904.4:c.1120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1120T>C
  hgvsp: ENST00000436088.1:c.1120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu374Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

17-42288494-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288494
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288494
    reference: chr 17
allele count: 3
allele frequency: 2.495798738789704e-5
allele num: 120202
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4965C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1116G>C
  hgvsp: ENST00000529383.1:c.1116G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1116G>C
  hgvsp: ENST00000436088.1:c.1116G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1116G>C
  hgvsp: ENST00000302904.4:c.1116G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.1005G>C
  hgvsp: ENST00000526094.1:c.1005G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.1005G>C
  hgvsp: ENST00000343638.5:c.1005G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.1005G>C
  hgvsp: ENST00000527034.1:c.1005G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.1005G>C
  hgvsp: ENST00000533177.1:c.1005G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.1005G>C
  hgvsp: ENST00000393606.3:c.1005G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg372Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

17-42288503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288503
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288503
    reference: chr 17
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1107G>A
  hgvsp: ENST00000529383.1:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1107G>A
  hgvsp: ENST00000436088.1:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4956C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.996G>A
  hgvsp: ENST00000527034.1:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1107G>A
  hgvsp: ENST00000302904.4:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.996G>A
  hgvsp: ENST00000343638.5:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.996G>A
  hgvsp: ENST00000526094.1:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.996G>A
  hgvsp: ENST00000533177.1:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.996G>A
  hgvsp: ENST00000393606.3:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu369Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-42288517-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288517
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288517
    reference: chr 17
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4942G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.982C>G
  hgvsp: ENSP00000437180.1:p.Leu328Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1093C>G
  hgvsp: ENSP00000302640.4:p.Leu365Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.982C>G
  hgvsp: ENSP00000431539.1:p.Leu328Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.982C>G
  hgvsp: ENSP00000345297.5:p.Leu328Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1093C>G
  hgvsp: ENSP00000435708.1:p.Leu365Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1093C>G
  hgvsp: ENSP00000390669.1:p.Leu365Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.982C>G
  hgvsp: ENSP00000432925.1:p.Leu328Val
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.982C>G
  hgvsp: ENSP00000377231.3:p.Leu328Val
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu365Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/17-42288526-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288526
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288526
    reference: chr 17
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-6G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-6G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-6G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-6G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-6G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-6G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-6G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4933C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-6G>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1090-6G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

17-42288526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288526
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288526
    reference: chr 17
allele count: 9
allele frequency: 7.472352296502939e-5
allele num: 120444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-6G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-6G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-6G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-6G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-6G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-6G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4933C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-6G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-6G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1090-6G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

17-42288536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288536
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288536
    reference: chr 17
allele count: 16
allele frequency: 1.327646580480276e-4
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-16C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-16C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-16C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-16C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-16C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-16C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4923G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-16C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-16C>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-42288541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288541
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288541
    reference: chr 17
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-21G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-21G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-21G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-21G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-21G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-21G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4918C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-21G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-21G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

17-42288542-G-GGGGCTGCATGCCTGGCACCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288542
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288562
    reference: chr 17
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: GGGGCTGCATGCCTGGCACCC
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-42288545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288545
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288545
    reference: chr 17
allele count: 10
allele frequency: 8.291323958609711e-5
allele num: 120608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-25C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-25C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-25C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-25C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-25C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4914G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-25C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-25C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-25C>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37058
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13617
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39682
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-42288549-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288549
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288549
    reference: chr 17
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-29G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4910C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-29G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-29G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-29G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-29G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-29G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-29G>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-29G>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-42288555-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288555
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288555
    reference: chr 17
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-35A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-35A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-35A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-35A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-35A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4904T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-35A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-35A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-35A>G
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7693
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

17-42288559-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288559
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288559
    reference: chr 17
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-39T>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-39T>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-39T>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-39T>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4900A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-39T>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-39T>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-39T>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-39T>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

17-42288565-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288565
    reference: chr 17
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-45T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-45T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-45T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-45T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4894A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-45T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-45T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-45T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-45T>C
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

17-42288567-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288567
    reference: chr 17
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-47A>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-47A>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-47A>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-47A>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-47A>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-47A>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4892T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-47A>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-47A>C
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-42288570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288570
    reference: chr 17
allele count: 5
allele frequency: 4.136881122584061e-5
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-50T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4889A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-50T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-50T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-50T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-50T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-50T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-50T>C
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-50T>C
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-42288571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288571
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288571
    reference: chr 17
allele count: 2
allele frequency: 1.654588173003739e-5
allele num: 120876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1090-51A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.979-51A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.979-51A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1090-51A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.979-51A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.979-51A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1090-51A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4888T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.979-51A>G
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-42288608-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288608
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288608
    reference: chr 17
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1089+50A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.978+50A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.978+50A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.978+50A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.978+50A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1089+50A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.978+50A>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4851T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1089+50A>G
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

17-42288616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288616
    reference: chr 17
allele count: 38
allele frequency: 3.131541212730539e-4
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.978+42G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1089+42G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1089+42G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.978+42G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.978+42G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.978+42G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1089+42G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4843C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.978+42G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-42288625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288625
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288625
    reference: chr 17
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4834C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1089+33G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.978+33G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1089+33G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.978+33G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.978+33G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1089+33G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.978+33G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.978+33G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-42288629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288629
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1089+29C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4830G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1089+29C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1089+29C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.978+29C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.978+29C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.978+29C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.978+29C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.978+29C>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-42288632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288632
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288632
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.978+26G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.978+26G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.978+26G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1089+26G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4827C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.978+26G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1089+26G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.978+26G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1089+26G>A
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10006
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-42288643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288643
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288643
    reference: chr 17
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1089+15G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1089+15G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.978+15G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1089+15G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.978+15G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.978+15G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.978+15G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.978+15G>A
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4816C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10001
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

17-42288644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288644
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288644
    reference: chr 17
allele count: 15
allele frequency: 1.23627732172881e-4
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.978+14C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1089+14C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1089+14C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1089+14C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.978+14C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.978+14C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4815G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.978+14C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.978+14C>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-42288647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288647
    reference: chr 17
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.978+11C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.978+11C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1089+11C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.978+11C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.978+11C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4812G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1089+11C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1089+11C>T
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.978+11C>T
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29895
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-42288647-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288647
    reference: chr 17
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.978+11C>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1089+11C>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1089+11C>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.978+11C>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1089+11C>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4812G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.978+11C>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.978+11C>G
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.978+11C>G
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

17-42288661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288661
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288661
    reference: chr 17
allele count: 1986
allele frequency: 1.637613998053994e-2
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.975C>T
  hgvsp: ENST00000527034.1:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1086C>T
  hgvsp: ENST00000302904.4:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1086C>T
  hgvsp: ENST00000529383.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.975C>T
  hgvsp: ENST00000343638.5:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1086C>T
  hgvsp: ENST00000436088.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4798G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.975C>T
  hgvsp: ENST00000393606.3:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.975C>T
  hgvsp: ENST00000533177.1:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.975C>T
  hgvsp: ENST00000526094.1:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25399
  bin: 2.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 5.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 3.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8807
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu362Leu
num of homozygotes: 160
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

17-42288670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288670
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288670
    reference: chr 17
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1077C>T
  hgvsp: ENST00000436088.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.966C>T
  hgvsp: ENST00000393606.3:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.966C>T
  hgvsp: ENST00000343638.5:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.966C>T
  hgvsp: ENST00000526094.1:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.966C>T
  hgvsp: ENST00000533177.1:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.966C>T
  hgvsp: ENST00000527034.1:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1077C>T
  hgvsp: ENST00000302904.4:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1077C>T
  hgvsp: ENST00000529383.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4789G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu359Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

17-42288672-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288672
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288672
    reference: chr 17
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1075C>T
  hgvsp: ENSP00000435708.1:p.Leu359Phe
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1075C>T
  hgvsp: ENSP00000390669.1:p.Leu359Phe
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.964C>T
  hgvsp: ENSP00000437180.1:p.Leu322Phe
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.964C>T
  hgvsp: ENSP00000377231.3:p.Leu322Phe
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4787G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.964C>T
  hgvsp: ENSP00000345297.5:p.Leu322Phe
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1075C>T
  hgvsp: ENSP00000302640.4:p.Leu359Phe
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.964C>T
  hgvsp: ENSP00000432925.1:p.Leu322Phe
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.964C>T
  hgvsp: ENSP00000431539.1:p.Leu322Phe
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu359Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-42288682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288682
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288682
    reference: chr 17
allele count: 3
allele frequency: 2.481923325115409e-5
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.954G>A
  hgvsp: ENST00000393606.3:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.954G>A
  hgvsp: ENST00000527034.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000432925
  ensembl transcript: ENST00000526094
  gene symbol: UBTF
  hgvsc: ENST00000526094.1:c.954G>A
  hgvsp: ENST00000526094.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1065G>A
  hgvsp: ENST00000529383.1:c.1065G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267394
  ensembl transcript: ENST00000586560
  gene symbol: CTB-175E5.7
  hgvsc: ENST00000586560.1:n.54-4777C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1065G>A
  hgvsp: ENST00000302904.4:c.1065G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.954G>A
  hgvsp: ENST00000533177.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.954G>A
  hgvsp: ENST00000343638.5:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1065G>A
  hgvsp: ENST00000436088.1:c.1065G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu355Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

17-42288685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42288685
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42288685
    reference: chr 17
allele count: 116
allele frequency: 9.602807993509826e-4
allele num: 120798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000437180
  ensembl transcript: ENST00000533177
  gene symbol: UBTF
  hgvsc: ENST00000533177.1:c.951C>T
  hgvsp: ENST00000533177.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000390669
  ensembl transcript: ENST00000436088
  gene symbol: UBTF
  hgvsc: ENST00000436088.1:c.1062C>T
  hgvsp: ENST00000436088.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000435708
  ensembl transcript: ENST00000529383
  gene symbol: UBTF
  hgvsc: ENST00000529383.1:c.1062C>T
  hgvsp: ENST00000529383.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000377231
  ensembl transcript: ENST00000393606
  gene symbol: UBTF
  hgvsc: ENST00000393606.3:c.951C>T
  hgvsp: ENST00000393606.3:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000302640
  ensembl transcript: ENST00000302904
  gene symbol: UBTF
  hgvsc: ENST00000302904.4:c.1062C>T
  hgvsp: ENST00000302904.4:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000345297
  ensembl transcript: ENST00000343638
  gene symbol: UBTF
  hgvsc: ENST00000343638.5:c.951C>T
  hgvsp: ENST00000343638.5:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108312
  ensembl protein: ENSP00000431539
  ensembl transcript: ENST00000527034
  gene symbol: UBTF
  hgvsc: ENST00000527034.1:c.951C>T
  hgvsp: ENST00000527034.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12511
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Tyr354Tyr
num of homozygotes: 1
reference allele: G

GenotypeDepth
all individuals: 1507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36303
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3554
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3463
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.358e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 2.946549e6

MQRankSum
type: SiteQuality
SIO_000300: -2.298e0

FS
type: SiteQuality
SIO_000300: 3.457e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
all individuals: 181
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 387
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34562
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656561640658649e-5
allele num: 60366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.282393e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

VQSLOD
type: SiteQuality
SIO_000300: 3.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

FS
type: SiteQuality
SIO_000300: 4.715e0

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

GenotypeQuality
all individuals: 1081
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36273
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603592046183451e-5
allele num: 62360
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.53e-1

DP
type: SiteQuality
SIO_000300: 1.337342e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 7.679e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.682e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

GenotypeQuality
all individuals: 2751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.75e1
variant carriers: 36

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.898380494749955e-5
allele num: 11238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.999232147427694e-4
allele num: 62512
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.788866259334691e-4
allele num: 14730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 8.05e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.214e0

DP
type: SiteQuality
SIO_000300: 1.341446e6

GenotypeDepth
all individuals: 2330
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36302
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3520
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
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: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.048e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 2.946715e6

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.976e0

GenotypeDepth
all individuals: 945
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3463
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36309
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

QD
type: SiteQuality
SIO_000300: 1.328e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

DP
type: SiteQuality
SIO_000300: 2.946703e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeDepth
all individuals: 2883
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2065
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3465
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 3.447e0

DP
type: SiteQuality
SIO_000300: 2.946413e6

QD
type: SiteQuality
SIO_000300: 1.498e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

GenotypeDepth
all individuals: 2623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36307
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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European (Finnish)
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66728
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MQ
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66732
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East Asian
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South 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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FS
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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East Asian
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VQSLOD
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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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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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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African
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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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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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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African
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East Asian
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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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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South Asian
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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East Asian
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African
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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DP
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MQ
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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
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64298
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.871907641561298e-5
allele num: 14552
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.390859e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.323e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.388e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 976
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 505
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.243123970537962e-4
allele num: 64354
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.043318348998774e-4
allele num: 14682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 1.393014e6

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

GenotypeQuality
all individuals: 37357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 2638
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variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.186239620403321e-4
allele num: 8430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.747e-1

DP
type: SiteQuality
SIO_000300: 1.394328e6

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.601e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 6790
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 900
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2622
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variant carriers: 3

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 339
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 859
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1258
bin: 9.75e1
variant carriers: 736

GenotypeQuality
all individuals: 3077
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 3

East Asian
type: Population
allele count: 1
allele frequency: 1.184834123222749e-4
allele num: 8440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 394
allele frequency: 4.002438033319788e-2
allele num: 9844
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.648856381330193e-5
allele num: 64532
num of homozygotes: 0

South Asian
type: Population
allele count: 354
allele frequency: 2.403258655804481e-2
allele num: 14730
num of homozygotes: 9

Latino
type: Population
allele count: 23
allele frequency: 2.011896431070679e-3
allele num: 11432
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.43e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

DP
type: SiteQuality
SIO_000300: 1.422771e6

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.15e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
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GenotypeQuality
all individuals: 748
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
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variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547604308530395e-5
allele num: 64616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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: 9860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.357404642323877e-4
allele num: 14734
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.296e0

FS
type: SiteQuality
SIO_000300: 1.039e0

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 1.417479e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.52e1

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

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

GenotypeQuality
all individuals: 3107
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
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: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547173314354674e-5
allele num: 64634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14654
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.019386106623587e-4
allele num: 9904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.566e1

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.419637e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

GenotypeQuality
all individuals: 3107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.009693053311793e-4
allele num: 9904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 2.031e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.566e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

DP
type: SiteQuality
SIO_000300: 1.419637e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

GenotypeQuality
all individuals: 1993
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2784
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545165178157545e-5
allele num: 64718
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.017756255044391e-4
allele num: 9912
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14784
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

FS
type: SiteQuality
SIO_000300: 1.944e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.635e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.43e-1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

DP
type: SiteQuality
SIO_000300: 1.4212e6

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

GenotypeQuality
all individuals: 224
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.006614552014432e-4
allele num: 9978
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64932
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.428201e6

FS
type: SiteQuality
SIO_000300: 1.108e0

VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.332e1

MQRankSum
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SIO_000300: 1.14e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.149e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

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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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14956
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.539124545958259e-5
allele num: 64972
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.219e0

DP
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FS
type: SiteQuality
SIO_000300: 1.814e0

BaseQRankSum
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QD
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SIO_000300: 1.436e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.530549773478634e-5
allele num: 65336
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.802e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -2.683e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.155e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 1.446862e6

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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variant carriers: 4

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65382
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.607222004953722e-4
allele num: 15342
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 2.863e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.449587e6

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

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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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526670941345302e-5
allele num: 65502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15470
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.427e1

DP
type: SiteQuality
SIO_000300: 1.454954e6

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
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allele num: 878
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.525832341542311e-5
allele num: 65538
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.825e1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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FS
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

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

South Asian
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 6.05143721633888e-4
allele num: 6610
num of homozygotes: 0

Latino
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African
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allele count: 2
allele frequency: 1.980590215884333e-4
allele num: 10098
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European (Non-Finnish)
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allele count: 37
allele frequency: 5.642136082222697e-4
allele num: 65578
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 65710
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European (Finnish)
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num of homozygotes: 0

African
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Latino
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Other
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South Asian
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MQRankSum
type: SiteQuality
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QD
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MQ
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DP
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SIO_000300: 1.477692e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.824e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 2.089e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.072e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
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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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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520496289989052e-5
allele num: 65768
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
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: 10120
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.47945e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-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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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65820
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.251562890722681e-5
allele num: 15996
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

QD
type: SiteQuality
SIO_000300: 6.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.479192e6

ClippingRankSum
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SIO_000300: 5.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.603e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.55497859160062e-5
allele num: 65862
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.749e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

QD
type: SiteQuality
SIO_000300: 1.072e1

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

FS
type: SiteQuality
SIO_000300: 2.457e0

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

DP
type: SiteQuality
SIO_000300: 1.481399e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-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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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65894
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: 10132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 2.522e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.322e1

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 1.491372e6

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.232e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.385e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65916
num of homozygotes: 0

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

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

Latino
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allele count: 2
allele frequency: 1.737317581653926e-4
allele num: 11512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.173e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 8.715e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.173e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515335192144502e-5
allele num: 65992
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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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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variant carriers: 0

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

Latino
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allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.70278943470748e-4
allele num: 16204
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Other
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allele frequency: 0.0e0
allele num: 892
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66000
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African
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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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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variant carriers: 0

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

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

African
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South Asian
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allele frequency: 6.150061500615006e-5
allele num: 16260
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66094
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Other
type: Population
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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QD
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66114
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.963093835885355e-4
allele num: 10188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.149305128520478e-5
allele num: 16262
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

FS
type: SiteQuality
SIO_000300: 1.868e0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.4e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.497493e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.147037128104254e-5
allele num: 16268
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66144
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 1.497695e6

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

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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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.556e0

DP
type: SiteQuality
SIO_000300: 1.497695e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.127e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.447e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

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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variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509115054931788e-5
allele num: 66264
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
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: 16278
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.695e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

DP
type: SiteQuality
SIO_000300: 1.498604e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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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: 8628
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.20729204394543e-4
allele num: 66264
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

FS
type: SiteQuality
SIO_000300: 3.695e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.498604e6

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

GenotypeQuality
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bin: 4.25e1
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
all individuals: 7503
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 6
allele frequency: 5.850234009360375e-4
allele num: 10256
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.056221142529499e-4
allele num: 66274
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.283e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 1.498573e6

FS
type: SiteQuality
SIO_000300: 6.32e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.215e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

FS
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.49991e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.435e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 151
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.356933932394536e-4
allele num: 66326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 1.501109e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
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bin: 2.25e1
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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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
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: 896
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.718e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.502876e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
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: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
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SIO_000300: -4.245e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 4.974e0

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 1.505102e6

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
all individuals: 229
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.173e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.506586e6

QD
type: SiteQuality
SIO_000300: 1.123e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

GenotypeQuality
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bin: 8.75e1
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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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.752e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.18e0

FS
type: SiteQuality
SIO_000300: 4.047e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -4.441e0

VQSLOD
type: SiteQuality
SIO_000300: -3.473e0

DP
type: SiteQuality
SIO_000300: 1.509797e6

QD
type: SiteQuality
SIO_000300: 1.26e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 4.987e1

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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bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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FS
type: SiteQuality
SIO_000300: 4.731e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.511076e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.526493256262042e-5
allele num: 66432
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.51326e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.9372e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
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variant carriers: 2

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

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

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

South Asian
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num of homozygotes: 0

African
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allele count: 0
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Latino
type: Population
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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QD
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DP
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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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bin: 9.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 35
allele frequency: 5.246747016849553e-4
allele num: 66708
num of homozygotes: 0

QD
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
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SIO_000300: 5.955e1

DP
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BaseQRankSum
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SIO_000300: -2.486e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

InbreedingCoeff
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DP
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MQRankSum
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FS
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MQ
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 9.2e-2

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

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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QD
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SIO_000300: 1.265e1

MQ
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FS
type: SiteQuality
SIO_000300: 2.587e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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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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variant carriers: 0

European (Finnish)
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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: 10388
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

FS
type: SiteQuality
SIO_000300: 3.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.295e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 7.0e-4

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.854e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.185e1

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e0

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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BaseQRankSum
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SIO_000300: 2.97e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.755e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

Other
type: Population
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allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
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allele count: 11
allele frequency: 9.512279488066413e-4
allele num: 11564
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49748141041017e-5
allele num: 66704
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

Other
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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allele num: 16510
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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FS
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 61
allele frequency: 9.147895983923698e-4
allele num: 66682
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South Asian
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African
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allele count: 1821
allele frequency: 1.753659476117103e-1
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Latino
type: Population
allele count: 92
allele frequency: 7.961232260297681e-3
allele num: 11556
num of homozygotes: 1

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.031221582297666e-4
allele num: 6598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.365e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.433e1

DP
type: SiteQuality
SIO_000300: 2.010223e6

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9094
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 244
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9027
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.366e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 1.026e0

DP
type: SiteQuality
SIO_000300: 1.958573e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 9.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 30510
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9093
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3641
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.685e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

DP
type: SiteQuality
SIO_000300: 1.957472e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
all individuals: 1059
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 274
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9077
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 3
allele frequency: 1.823486506199854e-4
allele num: 16452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.394e0

DP
type: SiteQuality
SIO_000300: 1.943688e6

FS
type: SiteQuality
SIO_000300: 1.396e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.09e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4