2-48848294-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848293
    reference: chr 2
allele count: 279
allele frequency: 2.454300744207322e-3
allele num: 113678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.22-8delC
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2236-8delC
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.124-8delC
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2236-8delC
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.235-8delC
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2236-8delC
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.22-8delC
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2236-8delC
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.22-8delC
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2236-8delC
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.124-8delC
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14871
  bin: 2.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 1.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24913
  bin: 2.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.25e1
  variant carriers: 51
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: TC
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

2-48848294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848294
    reference: chr 2
allele count: 7
allele frequency: 6.157743802670701e-5
allele num: 113678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.22-12T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2236-12T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.124-12T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2236-12T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2236-12T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.124-12T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.235-12T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2236-12T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.22-12T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2236-12T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.22-12T>C
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24913
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-48848295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848295
    reference: chr 2
allele count: 21640
allele frequency: 1.859937429092034e-1
allele num: 116348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.235-11C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.22-11C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2236-11C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.22-11C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.124-11C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.22-11C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2236-11C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2236-11C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.124-11C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2236-11C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2236-11C>T
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 442
genotype depth: GenotypeDepth
  all individuals: 14861
  bin: 2.75e1
  variant carriers: 3742
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.25e1
  variant carriers: 905
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 931
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 1521
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.75e1
  variant carriers: 2309
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.25e1
  variant carriers: 648
genotype depth: GenotypeDepth
  all individuals: 24549
  bin: 2.25e1
  variant carriers: 3388
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 3.25e1
  variant carriers: 3060
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 2218
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 452
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.5e0
  variant carriers: 163
num of homozygotes: 1606
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

2-48848298-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848298
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848298
    reference: chr 2
allele count: 1
allele frequency: 8.354777261638205e-6
allele num: 119692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.22-8C>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.124-8C>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.235-8C>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.22-8C>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.124-8C>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2236-8C>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.22-8C>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2236-8C>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2236-8C>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2236-8C>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2236-8C>G
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.124-8C>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-48848305-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848305
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848305
    reference: chr 2
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2236-1G>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.22-1G>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.124-1G>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.124-1G>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2236-1G>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2236-1G>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.22-1G>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.235-1G>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.22-1G>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2236-1G>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2236-1G>C
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
hgvs: c.124-1G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-48848308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848308
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848308
    reference: chr 2
allele count: 5
allele frequency: 4.142502071251036e-5
allele num: 120700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.24C>T
  hgvsp: ENST00000430487.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.24C>T
  hgvsp: ENST00000448460.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2238C>T
  hgvsp: ENST00000394754.1:c.2238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.126C>T
  hgvsp: ENST00000437125.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.24C>T
  hgvsp: ENST00000423675.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2238C>T
  hgvsp: ENST00000405008.1:c.2238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.237C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2238C>T
  hgvsp: ENST00000309827.2:c.2238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2238C>T
  hgvsp: ENST00000402114.2:c.2238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.126C>T
  hgvsp: ENST00000403751.3:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2238C>T
  hgvsp: ENST00000394751.3:c.2238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.126C>T
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

2-48848315-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848315
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848315
    reference: chr 2
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2245A>T
  hgvsp: ENSP00000385701.1:p.Thr749Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2245A>T
  hgvsp: ENSP00000385499.1:p.Thr749Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.244A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.31A>T
  hgvsp: ENSP00000387896.2:p.Thr11Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.31A>T
  hgvsp: ENSP00000394793.1:p.Thr11Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2245A>T
  hgvsp: ENSP00000378236.1:p.Thr749Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.133A>T
  hgvsp: ENSP00000384597.3:p.Thr45Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2245A>T
  hgvsp: ENSP00000378234.3:p.Thr749Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2245A>T
  hgvsp: ENSP00000311493.2:p.Thr749Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.133A>T
  hgvsp: ENSP00000396702.1:p.Thr45Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.31A>T
  hgvsp: ENSP00000412645.1:p.Thr11Ser
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr45Ser
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

2-48848320-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848320
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848320
    reference: chr 2
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.36G>C
  hgvsp: ENSP00000387896.2:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2250G>C
  hgvsp: ENSP00000385701.1:p.Lys750Asn
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2250G>C
  hgvsp: ENSP00000311493.2:p.Lys750Asn
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.138G>C
  hgvsp: ENSP00000396702.1:p.Lys46Asn
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.138G>C
  hgvsp: ENSP00000384597.3:p.Lys46Asn
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.36G>C
  hgvsp: ENSP00000412645.1:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2250G>C
  hgvsp: ENSP00000378236.1:p.Lys750Asn
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2250G>C
  hgvsp: ENSP00000385499.1:p.Lys750Asn
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2250G>C
  hgvsp: ENSP00000378234.3:p.Lys750Asn
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.36G>C
  hgvsp: ENSP00000394793.1:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.249G>C
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys46Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-48848323-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848323
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848323
    reference: chr 2
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2253T>G
  hgvsp: ENST00000394751.3:c.2253T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.141T>G
  hgvsp: ENST00000403751.3:c.141T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.39T>G
  hgvsp: ENST00000448460.1:c.39T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.39T>G
  hgvsp: ENST00000430487.2:c.39T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2253T>G
  hgvsp: ENST00000309827.2:c.2253T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.252T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.141T>G
  hgvsp: ENST00000437125.1:c.141T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2253T>G
  hgvsp: ENST00000394754.1:c.2253T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2253T>G
  hgvsp: ENST00000405008.1:c.2253T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2253T>G
  hgvsp: ENST00000402114.2:c.2253T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.39T>G
  hgvsp: ENST00000423675.1:c.39T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val47Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-48848329-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848329
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848329
    reference: chr 2
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.147G>C
  hgvsp: ENSP00000384597.3:p.Gln49His
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.258G>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2259G>C
  hgvsp: ENSP00000311493.2:p.Gln753His
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.147G>C
  hgvsp: ENSP00000396702.1:p.Gln49His
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.45G>C
  hgvsp: ENSP00000394793.1:p.Gln15His
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2259G>C
  hgvsp: ENSP00000378234.3:p.Gln753His
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.45G>C
  hgvsp: ENSP00000412645.1:p.Gln15His
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2259G>C
  hgvsp: ENSP00000385701.1:p.Gln753His
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2259G>C
  hgvsp: ENSP00000378236.1:p.Gln753His
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.45G>C
  hgvsp: ENSP00000387896.2:p.Gln15His
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2259G>C
  hgvsp: ENSP00000385499.1:p.Gln753His
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln49His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-48848331-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848331
    reference: chr 2
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2261C>G
  hgvsp: ENSP00000385499.1:p.Ser754Cys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2261C>G
  hgvsp: ENSP00000311493.2:p.Ser754Cys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.47C>G
  hgvsp: ENSP00000387896.2:p.Ser16Cys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.260C>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2261C>G
  hgvsp: ENSP00000385701.1:p.Ser754Cys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.47C>G
  hgvsp: ENSP00000412645.1:p.Ser16Cys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.149C>G
  hgvsp: ENSP00000396702.1:p.Ser50Cys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2261C>G
  hgvsp: ENSP00000378234.3:p.Ser754Cys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.47C>G
  hgvsp: ENSP00000394793.1:p.Ser16Cys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2261C>G
  hgvsp: ENSP00000378236.1:p.Ser754Cys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.149C>G
  hgvsp: ENSP00000384597.3:p.Ser50Cys
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser50Cys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-48848350-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848349
    reference: chr 2
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.170delT
  hgvsp: ENSP00000396702.1:p.Phe57SerfsTer31
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.68delT
  hgvsp: ENSP00000387896.2:p.Phe23SerfsTer29
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2282delT
  hgvsp: ENSP00000385701.1:p.Phe761SerfsTer29
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.170delT
  hgvsp: ENSP00000384597.3:p.Phe57SerfsTer29
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.68delT
  hgvsp: ENSP00000394793.1:p.Phe23SerfsTer39
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.68delT
  hgvsp: ENSP00000412645.1:p.Phe23SerfsTer29
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2282delT
  hgvsp: ENSP00000378236.1:p.Phe761SerfsTer29
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2282delT
  hgvsp: ENSP00000311493.2:p.Phe761SerfsTer29
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.281delT
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2282delT
  hgvsp: ENSP00000385499.1:p.Phe761SerfsTer29
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2282delT
  hgvsp: ENSP00000378234.3:p.Phe761SerfsTer38
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe57SerfsTer29
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: CT
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-48848355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848355
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848355
    reference: chr 2
allele count: 4
allele frequency: 3.297663605335619e-5
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2285G>A
  hgvsp: ENSP00000311493.2:p.Arg762Lys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.284G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2285G>A
  hgvsp: ENSP00000385499.1:p.Arg762Lys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.173G>A
  hgvsp: ENSP00000396702.1:p.Arg58Lys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2285G>A
  hgvsp: ENSP00000385701.1:p.Arg762Lys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.71G>A
  hgvsp: ENSP00000412645.1:p.Arg24Lys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2285G>A
  hgvsp: ENSP00000378236.1:p.Arg762Lys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.71G>A
  hgvsp: ENSP00000394793.1:p.Arg24Lys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.71G>A
  hgvsp: ENSP00000387896.2:p.Arg24Lys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.173G>A
  hgvsp: ENSP00000384597.3:p.Arg58Lys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2285G>A
  hgvsp: ENSP00000378234.3:p.Arg762Lys
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg58Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-48848358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848358
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848358
    reference: chr 2
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2288A>G
  hgvsp: ENSP00000378236.1:p.Asn763Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2288A>G
  hgvsp: ENSP00000385499.1:p.Asn763Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.74A>G
  hgvsp: ENSP00000412645.1:p.Asn25Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.176A>G
  hgvsp: ENSP00000384597.3:p.Asn59Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2288A>G
  hgvsp: ENSP00000311493.2:p.Asn763Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2288A>G
  hgvsp: ENSP00000385701.1:p.Asn763Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.74A>G
  hgvsp: ENSP00000387896.2:p.Asn25Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.74A>G
  hgvsp: ENSP00000394793.1:p.Asn25Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.176A>G
  hgvsp: ENSP00000396702.1:p.Asn59Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.287A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2288A>G
  hgvsp: ENSP00000378234.3:p.Asn763Ser
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn59Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-48848366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848366
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848366
    reference: chr 2
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.82C>T
  hgvsp: ENSP00000387896.2:p.Gln28Ter
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.82C>T
  hgvsp: ENSP00000394793.1:p.Gln28Ter
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2296C>T
  hgvsp: ENSP00000378236.1:p.Gln766Ter
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.184C>T
  hgvsp: ENSP00000384597.3:p.Gln62Ter
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2296C>T
  hgvsp: ENSP00000311493.2:p.Gln766Ter
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.82C>T
  hgvsp: ENSP00000412645.1:p.Gln28Ter
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2296C>T
  hgvsp: ENSP00000385499.1:p.Gln766Ter
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2296C>T
  hgvsp: ENSP00000378234.3:p.Gln766Ter
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2296C>T
  hgvsp: ENSP00000385701.1:p.Gln766Ter
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.184C>T
  hgvsp: ENSP00000396702.1:p.Gln62Ter
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.295C>T
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln62Ter
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-48848375-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848375
    reference: chr 2
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.91C>G
  hgvsp: ENSP00000394793.1:p.Leu31Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.91C>G
  hgvsp: ENSP00000412645.1:p.Leu31Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2305C>G
  hgvsp: ENSP00000311493.2:p.Leu769Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.193C>G
  hgvsp: ENSP00000396702.1:p.Leu65Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2305C>G
  hgvsp: ENSP00000385499.1:p.Leu769Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.193C>G
  hgvsp: ENSP00000384597.3:p.Leu65Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2305C>G
  hgvsp: ENSP00000385701.1:p.Leu769Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.91C>G
  hgvsp: ENSP00000387896.2:p.Leu31Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.304C>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2305C>G
  hgvsp: ENSP00000378236.1:p.Leu769Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2305C>G
  hgvsp: ENSP00000378234.3:p.Leu769Val
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu65Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-48848375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848375
    reference: chr 2
allele count: 16
allele frequency: 1.319195950068433e-4
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2305C>T
  hgvsp: ENST00000309827.2:c.2305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.304C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.91C>T
  hgvsp: ENST00000430487.2:c.91C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.91C>T
  hgvsp: ENST00000448460.1:c.91C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.193C>T
  hgvsp: ENST00000437125.1:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.91C>T
  hgvsp: ENST00000423675.1:c.91C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.193C>T
  hgvsp: ENST00000403751.3:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2305C>T
  hgvsp: ENST00000405008.1:c.2305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2305C>T
  hgvsp: ENST00000394754.1:c.2305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2305C>T
  hgvsp: ENST00000394751.3:c.2305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2305C>T
  hgvsp: ENST00000402114.2:c.2305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23091
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu65Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-48848376-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848376
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848376
    reference: chr 2
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2306T>C
  hgvsp: ENSP00000385701.1:p.Leu769Pro
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2306T>C
  hgvsp: ENSP00000378236.1:p.Leu769Pro
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.194T>C
  hgvsp: ENSP00000396702.1:p.Leu65Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.305T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.92T>C
  hgvsp: ENSP00000394793.1:p.Leu31Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.92T>C
  hgvsp: ENSP00000412645.1:p.Leu31Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2306T>C
  hgvsp: ENSP00000311493.2:p.Leu769Pro
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.92T>C
  hgvsp: ENSP00000387896.2:p.Leu31Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2306T>C
  hgvsp: ENSP00000385499.1:p.Leu769Pro
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.194T>C
  hgvsp: ENSP00000384597.3:p.Leu65Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2306T>C
  hgvsp: ENSP00000378234.3:p.Leu769Pro
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu65Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-48848382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848382
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848382
    reference: chr 2
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.200C>T
  hgvsp: ENSP00000384597.3:p.Thr67Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.98C>T
  hgvsp: ENSP00000412645.1:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2312C>T
  hgvsp: ENSP00000311493.2:p.Thr771Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.311C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.200C>T
  hgvsp: ENSP00000396702.1:p.Thr67Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.98C>T
  hgvsp: ENSP00000387896.2:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.98C>T
  hgvsp: ENSP00000394793.1:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2312C>T
  hgvsp: ENSP00000385701.1:p.Thr771Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2312C>T
  hgvsp: ENSP00000385499.1:p.Thr771Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2312C>T
  hgvsp: ENSP00000378236.1:p.Thr771Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2312C>T
  hgvsp: ENSP00000378234.3:p.Thr771Ile
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr67Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-48848383-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848383
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848383
    reference: chr 2
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.99T>C
  hgvsp: ENST00000423675.1:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.99T>C
  hgvsp: ENST00000448460.1:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2313T>C
  hgvsp: ENST00000394754.1:c.2313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2313T>C
  hgvsp: ENST00000309827.2:c.2313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2313T>C
  hgvsp: ENST00000394751.3:c.2313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2313T>C
  hgvsp: ENST00000402114.2:c.2313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.99T>C
  hgvsp: ENST00000430487.2:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2313T>C
  hgvsp: ENST00000405008.1:c.2313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.201T>C
  hgvsp: ENST00000437125.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.312T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.201T>C
  hgvsp: ENST00000403751.3:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr67Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-48848389-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848389
    reference: chr 2
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2319G>T
  hgvsp: ENSP00000385701.1:p.Gln773His
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2319G>T
  hgvsp: ENSP00000385499.1:p.Gln773His
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2319G>T
  hgvsp: ENSP00000378236.1:p.Gln773His
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2319G>T
  hgvsp: ENSP00000378234.3:p.Gln773His
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.105G>T
  hgvsp: ENSP00000412645.1:p.Gln35His
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.318G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.207G>T
  hgvsp: ENSP00000396702.1:p.Gln69His
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2319G>T
  hgvsp: ENSP00000311493.2:p.Gln773His
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.105G>T
  hgvsp: ENSP00000387896.2:p.Gln35His
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.105G>T
  hgvsp: ENSP00000394793.1:p.Gln35His
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.207G>T
  hgvsp: ENSP00000384597.3:p.Gln69His
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln69His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

2-48848395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848395
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848395
    reference: chr 2
allele count: 3
allele frequency: 2.473981956424931e-5
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2325G>A
  hgvsp: ENST00000394751.3:c.2325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.111G>A
  hgvsp: ENST00000430487.2:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.213G>A
  hgvsp: ENST00000403751.3:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.111G>A
  hgvsp: ENST00000423675.1:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.111G>A
  hgvsp: ENST00000448460.1:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.324G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.213G>A
  hgvsp: ENST00000437125.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2325G>A
  hgvsp: ENST00000402114.2:c.2325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2325G>A
  hgvsp: ENST00000405008.1:c.2325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2325G>A
  hgvsp: ENST00000309827.2:c.2325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2325G>A
  hgvsp: ENST00000394754.1:c.2325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro71Pro
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-48848396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848396
    reference: chr 2
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2326C>T
  hgvsp: ENSP00000385499.1:p.His776Tyr
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2326C>T
  hgvsp: ENSP00000385701.1:p.His776Tyr
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.214C>T
  hgvsp: ENSP00000384597.3:p.His72Tyr
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.112C>T
  hgvsp: ENSP00000394793.1:p.His38Tyr
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2326C>T
  hgvsp: ENSP00000378236.1:p.His776Tyr
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.112C>T
  hgvsp: ENSP00000412645.1:p.His38Tyr
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2326C>T
  hgvsp: ENSP00000311493.2:p.His776Tyr
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.325C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.214C>T
  hgvsp: ENSP00000396702.1:p.His72Tyr
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.112C>T
  hgvsp: ENSP00000387896.2:p.His38Tyr
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2326C>T
  hgvsp: ENSP00000378234.3:p.His776Tyr
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His72Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-48848398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848398
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848398
    reference: chr 2
allele count: 4
allele frequency: 3.298533801725133e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.114C>T
  hgvsp: ENST00000423675.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.216C>T
  hgvsp: ENST00000437125.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2328C>T
  hgvsp: ENST00000309827.2:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.114C>T
  hgvsp: ENST00000448460.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.327C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2328C>T
  hgvsp: ENST00000394751.3:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.114C>T
  hgvsp: ENST00000430487.2:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2328C>T
  hgvsp: ENST00000402114.2:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.216C>T
  hgvsp: ENST00000403751.3:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2328C>T
  hgvsp: ENST00000394754.1:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2328C>T
  hgvsp: ENST00000405008.1:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His72His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-48848406-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848406
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848406
    reference: chr 2
allele count: 2
allele frequency: 1.649402916144356e-5
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2336A>G
  hgvsp: ENSP00000311493.2:p.His779Arg
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.224A>G
  hgvsp: ENSP00000396702.1:p.His75Arg
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2336A>G
  hgvsp: ENSP00000378234.3:p.His779Arg
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.224A>G
  hgvsp: ENSP00000384597.3:p.His75Arg
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.122A>G
  hgvsp: ENSP00000394793.1:p.His41Arg
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2336A>G
  hgvsp: ENSP00000378236.1:p.His779Arg
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2336A>G
  hgvsp: ENSP00000385499.1:p.His779Arg
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.122A>G
  hgvsp: ENSP00000387896.2:p.His41Arg
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.335A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2336A>G
  hgvsp: ENSP00000385701.1:p.His779Arg
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.122A>G
  hgvsp: ENSP00000412645.1:p.His41Arg
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His75Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

2-48848410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848410
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848410
    reference: chr 2
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.228A>G
  hgvsp: ENST00000437125.1:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.228A>G
  hgvsp: ENST00000403751.3:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2340A>G
  hgvsp: ENST00000405008.1:c.2340A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.126A>G
  hgvsp: ENST00000423675.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2340A>G
  hgvsp: ENST00000394751.3:c.2340A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2340A>G
  hgvsp: ENST00000309827.2:c.2340A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.126A>G
  hgvsp: ENST00000448460.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.126A>G
  hgvsp: ENST00000430487.2:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2340A>G
  hgvsp: ENST00000394754.1:c.2340A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.339A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2340A>G
  hgvsp: ENST00000402114.2:c.2340A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln76Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-48848419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848419
    reference: chr 2
allele count: 4
allele frequency: 3.302400845414616e-5
allele num: 121124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2349A>G
  hgvsp: ENST00000402114.2:c.2349A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.135A>G
  hgvsp: ENST00000423675.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2349A>G
  hgvsp: ENST00000394751.3:c.2349A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2349A>G
  hgvsp: ENST00000309827.2:c.2349A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2349A>G
  hgvsp: ENST00000405008.1:c.2349A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.135A>G
  hgvsp: ENST00000430487.2:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.237A>G
  hgvsp: ENST00000437125.1:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2349A>G
  hgvsp: ENST00000394754.1:c.2349A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.135A>G
  hgvsp: ENST00000448460.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.237A>G
  hgvsp: ENST00000403751.3:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.348A>G
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln79Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-48848421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848421
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848421
    reference: chr 2
allele count: 5
allele frequency: 4.128819157720892e-5
allele num: 121100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.137C>T
  hgvsp: ENSP00000387896.2:p.Ser46Leu
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.137C>T
  hgvsp: ENSP00000412645.1:p.Ser46Leu
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2351C>T
  hgvsp: ENSP00000385701.1:p.Ser784Leu
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2351C>T
  hgvsp: ENSP00000311493.2:p.Ser784Leu
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.239C>T
  hgvsp: ENSP00000396702.1:p.Ser80Leu
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.137C>T
  hgvsp: ENSP00000394793.1:p.Ser46Leu
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.239C>T
  hgvsp: ENSP00000384597.3:p.Ser80Leu
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2351C>T
  hgvsp: ENSP00000378236.1:p.Ser784Leu
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.350C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2351C>T
  hgvsp: ENSP00000385499.1:p.Ser784Leu
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2351C>T
  hgvsp: ENSP00000378234.3:p.Ser784Leu
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser80Leu
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: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

2-48848422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848422
    reference: chr 2
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2352G>A
  hgvsp: ENST00000405008.1:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2352G>A
  hgvsp: ENST00000402114.2:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2352G>A
  hgvsp: ENST00000309827.2:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.138G>A
  hgvsp: ENST00000448460.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.138G>A
  hgvsp: ENST00000430487.2:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2352G>A
  hgvsp: ENST00000394751.3:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.240G>A
  hgvsp: ENST00000437125.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.240G>A
  hgvsp: ENST00000403751.3:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2352G>A
  hgvsp: ENST00000394754.1:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.351G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.138G>A
  hgvsp: ENST00000423675.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser80Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-48848425-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848425
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848425
    reference: chr 2
allele count: 4
allele frequency: 3.305621208865676e-5
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2355A>G
  hgvsp: ENST00000405008.1:c.2355A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2355A>G
  hgvsp: ENST00000402114.2:c.2355A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.141A>G
  hgvsp: ENST00000423675.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2355A>G
  hgvsp: ENST00000309827.2:c.2355A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2355A>G
  hgvsp: ENST00000394754.1:c.2355A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.243A>G
  hgvsp: ENST00000403751.3:c.243A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2355A>G
  hgvsp: ENST00000394751.3:c.2355A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.141A>G
  hgvsp: ENST00000430487.2:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.354A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.243A>G
  hgvsp: ENST00000437125.1:c.243A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.141A>G
  hgvsp: ENST00000448460.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser81Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-48848427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848427
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848427
    reference: chr 2
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2357C>T
  hgvsp: ENSP00000311493.2:p.Thr786Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2357C>T
  hgvsp: ENSP00000385701.1:p.Thr786Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.143C>T
  hgvsp: ENSP00000394793.1:p.Thr48Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2357C>T
  hgvsp: ENSP00000378236.1:p.Thr786Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.245C>T
  hgvsp: ENSP00000396702.1:p.Thr82Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.356C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.245C>T
  hgvsp: ENSP00000384597.3:p.Thr82Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2357C>T
  hgvsp: ENSP00000385499.1:p.Thr786Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.143C>T
  hgvsp: ENSP00000412645.1:p.Thr48Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2357C>T
  hgvsp: ENSP00000378234.3:p.Thr786Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.143C>T
  hgvsp: ENSP00000387896.2:p.Thr48Ile
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr82Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-48848444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848444
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848444
    reference: chr 2
allele count: 3
allele frequency: 2.500166677778519e-5
allele num: 119992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+1G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+15G>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+15G>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.262G>A
  hgvsp: ENSP00000396702.1:p.Val88Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+15G>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+15G>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+15G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+15G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+15G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+15G>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+15G>A
  variant of: http://identifiers.org/hgnc/30727
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: c.159+1G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-48848451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848451
    reference: chr 2
allele count: 1
allele frequency: 8.410711882653748e-6
allele num: 118896
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+22A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+22A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+22A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.269A>G
  hgvsp: ENSP00000396702.1:p.Glu90Gly
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+22A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+22A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+8A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+22A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+22A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+22A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+22A>G
  variant of: http://identifiers.org/hgnc/30727
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43928
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu90Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-48848451-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848451
    reference: chr 2
allele count: 1
allele frequency: 8.410711882653748e-6
allele num: 118896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+22A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.269A>T
  hgvsp: ENSP00000396702.1:p.Glu90Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+22A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+8A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+22A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+22A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+22A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+22A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+22A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+22A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+22A>T
  variant of: http://identifiers.org/hgnc/30727
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu90Val
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-48848452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848452
    reference: chr 2
allele count: 1
allele frequency: 8.410853365182432e-6
allele num: 118894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+23G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+23G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.270G>A
  hgvsp: ENST00000437125.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+23G>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+9G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+23G>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+23G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+23G>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+23G>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+23G>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+23G>A
  variant of: http://identifiers.org/hgnc/30651
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu90Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-48848454-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848454
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848454
    reference: chr 2
allele count: 390
allele frequency: 3.280177634234961e-3
allele num: 118896
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+25A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+25A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+25A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+25A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+25A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+11A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+25A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+25A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+25A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.272A>T
  hgvsp: ENSP00000396702.1:p.Tyr91Phe
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+25A>T
  variant of: http://identifiers.org/hgnc/30651
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 24842
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22069
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr91Phe
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-48848455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848455
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848455
    reference: chr 2
allele count: 8
allele frequency: 6.753334458889077e-5
allele num: 118460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+26C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.273C>T
  hgvsp: ENST00000437125.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+26C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+26C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+26C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+26C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+26C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+26C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+26C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+26C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+12C>T
  variant of: http://identifiers.org/hgnc/30727
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24367
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: c.273C>T
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-48848456-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848456
    reference: chr 2
allele count: 1
allele frequency: 8.440813019110001e-6
allele num: 118472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+27T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274T>C
  hgvsp: ENSP00000396702.1:p.Ser92Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+27T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+27T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+27T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+13T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+27T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+27T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+27T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+27T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+27T>C
  variant of: http://identifiers.org/hgnc/30727
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser92Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

2-48848466-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848466
    reference: chr 2
allele count: 1
allele frequency: 8.566924816667809e-6
allele num: 116728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274+10T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+23T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+37T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+37T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+37T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+37T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+37T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+37T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+37T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+37T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+37T>G
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22252
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-48848468-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848468
    reference: chr 2
allele count: 1
allele frequency: 8.592541673827119e-6
allele num: 116380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+25C>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+39C>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+39C>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+39C>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274+12C>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+39C>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+39C>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+39C>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+39C>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+39C>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+39C>A
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

2-48848472-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848472
    reference: chr 2
allele count: 1
allele frequency: 8.654262224145391e-6
allele num: 115550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+43A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+29A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274+16A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+43A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+43A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+43A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+43A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+43A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+43A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+43A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+43A>T
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17470
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-48848476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848476
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848476
    reference: chr 2
allele count: 3
allele frequency: 2.608695652173913e-5
allele num: 115000
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+47A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274+20A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+47A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+33A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+47A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+47A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+47A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+47A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+47A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+47A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+47A>G
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16122
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17979
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

2-48848484-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848484
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848484
    reference: chr 2
allele count: 1
allele frequency: 8.800647727672756e-6
allele num: 113628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+55T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+55T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+55T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+55T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+55T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274+28T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+55T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+55T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+41T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+55T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+55T>G
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10680
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-48848488-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848488
    reference: chr 2
allele count: 1
allele frequency: 8.842514811212309e-6
allele num: 113090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+59G>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+59G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+59G>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+59G>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+45G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+59G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+59G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+59G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+59G>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274+32G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+59G>T
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10183
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-48848490-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848490
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848490
    reference: chr 2
allele count: 1
allele frequency: 8.859436185481156e-6
allele num: 112874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274+34A>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+61A>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+61A>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+61A>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+61A>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+61A>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+61A>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+61A>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+61A>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+61A>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+47A>C
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-48848493-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848493
    reference: chr 2
allele count: 1
allele frequency: 8.943103972526785e-6
allele num: 111818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274+37T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+64T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+50T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+64T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+64T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+64T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+64T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+64T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+64T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+64T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+64T>C
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-48848502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48848502
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48848502
    reference: chr 2
allele count: 1
allele frequency: 9.284189026088571e-6
allele num: 107710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2359+73T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.145+73T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2359+73T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.145+73T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2359+73T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.159+59T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.274+46T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.247+73T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2359+73T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2359+73T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.358+73T>C
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8851
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

2-48869500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869500
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869500
    reference: chr 2
allele count: 256
allele frequency: 3.204967699934899e-3
allele num: 79876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.146-41T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.275-41T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2360-41T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2360-41T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.160-41T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.359-41T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.146-41T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4092T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.248-41T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2360-41T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2360-41T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4069A>G
  variant of: http://identifiers.org/hgnc/6585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16756
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 14073
  bin: 1.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11407
  bin: 2.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 5
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

2-48869510-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869510
    reference: chr 2
allele count: 1
allele frequency: 1.207612791034683e-5
allele num: 82808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4082T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2360-31T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2360-31T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.359-31T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.248-31T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2360-31T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.146-31T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.146-31T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2360-31T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.275-31T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.160-31T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4059A>G
  variant of: http://identifiers.org/hgnc/6585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-48869516-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869516
    reference: chr 2
allele count: 1
allele frequency: 1.149795336430115e-5
allele num: 86972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.146-25T>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.248-25T>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4076T>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2360-25T>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.275-25T>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2360-25T>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2360-25T>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.359-25T>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2360-25T>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4053A>T
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.160-25T>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.146-25T>A
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-48869516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869516
    reference: chr 2
allele count: 1
allele frequency: 1.149795336430115e-5
allele num: 86972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4076T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.146-25T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.275-25T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.359-25T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2360-25T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2360-25T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.160-25T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.146-25T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4053A>G
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2360-25T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2360-25T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.248-25T>C
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-48869522-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869522
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869522
    reference: chr 2
allele count: 2
allele frequency: 2.185410201494821e-5
allele num: 91516
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2360-19T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2360-19T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.146-19T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.160-19T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4070T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4047A>G
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.275-19T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2360-19T>C
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.248-19T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.146-19T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.359-19T>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2360-19T>C
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-48869523-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869523
    reference: chr 2
allele count: 3
allele frequency: 3.251539061822596e-5
allele num: 92264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2360-18A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4046T>C
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.146-18A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.359-18A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2360-18A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2360-18A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.248-18A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.275-18A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4069A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2360-18A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.146-18A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.160-18A>G
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-48869535-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869535
    reference: chr 2
allele count: 1
allele frequency: 9.683541852267886e-6
allele num: 103268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.146-6A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.146-6A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2360-6A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.248-6A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2360-6A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4057A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.275-6A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2360-6A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.359-6A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4034T>C
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.160-6A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2360-6A>G
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.248-6A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-48869539-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869539
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869539
    reference: chr 2
allele count: 3
allele frequency: 2.842739642951901e-5
allele num: 105532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.160-2A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2360-2A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.146-2A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.275-2A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2360-2A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4030T>C
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.359-2A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2360-2A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.248-2A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.146-2A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4053A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2360-2A>G
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.248-2A>G
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: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

2-48869546-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869546
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869546
    reference: chr 2
allele count: 1
allele frequency: 9.303883440948252e-6
allele num: 107482
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.253T>G
  hgvsp: ENSP00000384597.3:p.Leu85Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2365T>G
  hgvsp: ENSP00000385499.1:p.Leu789Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.280T>G
  hgvsp: ENSP00000396702.1:p.Leu94Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4046T>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.151T>G
  hgvsp: ENSP00000412645.1:p.Leu51Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.364T>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.165T>G
  hgvsp: ENSP00000394793.1:p.His55Gln
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2365T>G
  hgvsp: ENSP00000385701.1:p.Leu789Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4023A>C
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.151T>G
  hgvsp: ENSP00000387896.2:p.Leu51Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2365T>G
  hgvsp: ENSP00000311493.2:p.Leu789Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2365T>G
  hgvsp: ENSP00000378236.1:p.Leu789Val
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu85Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-48869555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869555
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869555
    reference: chr 2
allele count: 1
allele frequency: 9.147457006952068e-6
allele num: 109320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.262C>T
  hgvsp: ENSP00000384597.3:p.Pro88Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2374C>T
  hgvsp: ENSP00000385701.1:p.Pro792Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2374C>T
  hgvsp: ENSP00000311493.2:p.Pro792Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4037C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.160C>T
  hgvsp: ENSP00000387896.2:p.Pro54Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.160C>T
  hgvsp: ENSP00000412645.1:p.Pro54Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2374C>T
  hgvsp: ENSP00000385499.1:p.Pro792Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4014G>A
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.373C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.289C>T
  hgvsp: ENSP00000396702.1:p.Pro97Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2374C>T
  hgvsp: ENSP00000378236.1:p.Pro792Ser
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro88Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-48869558-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869558
    reference: chr 2
allele count: 1
allele frequency: 9.102659797192741e-6
allele num: 109858
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2377G>C
  hgvsp: ENSP00000385701.1:p.Ala793Pro
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.163G>C
  hgvsp: ENSP00000387896.2:p.Ala55Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*9G>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2377G>C
  hgvsp: ENSP00000378236.1:p.Ala793Pro
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.265G>C
  hgvsp: ENSP00000384597.3:p.Ala89Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2377G>C
  hgvsp: ENSP00000311493.2:p.Ala793Pro
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2377G>C
  hgvsp: ENSP00000385499.1:p.Ala793Pro
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4011C>G
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.163G>C
  hgvsp: ENSP00000412645.1:p.Ala55Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.292G>C
  hgvsp: ENSP00000396702.1:p.Ala98Pro
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.376G>C
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4034G>C
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala89Pro
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-48869558-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869558
    reference: chr 2
allele count: 1
allele frequency: 9.102659797192741e-6
allele num: 109858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.376G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2377G>T
  hgvsp: ENSP00000385701.1:p.Ala793Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*9G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.292G>T
  hgvsp: ENSP00000396702.1:p.Ala98Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.163G>T
  hgvsp: ENSP00000387896.2:p.Ala55Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2377G>T
  hgvsp: ENSP00000385499.1:p.Ala793Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2377G>T
  hgvsp: ENSP00000311493.2:p.Ala793Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4034G>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.163G>T
  hgvsp: ENSP00000412645.1:p.Ala55Ser
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2377G>T
  hgvsp: ENSP00000378236.1:p.Ala793Ser
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4011C>A
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.265G>T
  hgvsp: ENSP00000384597.3:p.Ala89Ser
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala89Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-48869561-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869561
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869561
    reference: chr 2
allele count: 1
allele frequency: 9.068978651624254e-6
allele num: 110266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.166G>T
  hgvsp: ENSP00000387896.2:p.Gly56Cys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2380G>T
  hgvsp: ENSP00000311493.2:p.Gly794Cys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.268G>T
  hgvsp: ENSP00000384597.3:p.Gly90Cys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4031G>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4008C>A
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.166G>T
  hgvsp: ENSP00000412645.1:p.Gly56Cys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2380G>T
  hgvsp: ENSP00000385701.1:p.Gly794Cys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2380G>T
  hgvsp: ENSP00000378236.1:p.Gly794Cys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.295G>T
  hgvsp: ENSP00000396702.1:p.Gly99Cys
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2380G>T
  hgvsp: ENSP00000385499.1:p.Gly794Cys
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*12G>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.379G>T
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly90Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

2-48869566-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869566
    reference: chr 2
allele count: 1
allele frequency: 9.048463570885663e-6
allele num: 110516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*17A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2385A>G
  hgvsp: ENST00000394754.1:c.2385A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2385A>G
  hgvsp: ENST00000309827.2:c.2385A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2385A>G
  hgvsp: ENST00000402114.2:c.2385A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4026A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.300A>G
  hgvsp: ENST00000437125.1:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.171A>G
  hgvsp: ENST00000430487.2:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4003T>C
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.273A>G
  hgvsp: ENST00000403751.3:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2385A>G
  hgvsp: ENST00000405008.1:c.2385A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.171A>G
  hgvsp: ENST00000448460.1:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.384A>G
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38487
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg91Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-48869567-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869567
    reference: chr 2
allele count: 1
allele frequency: 9.042408897730355e-6
allele num: 110590
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2386A>G
  hgvsp: ENSP00000378236.1:p.Thr796Ala
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.301A>G
  hgvsp: ENSP00000396702.1:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2386A>G
  hgvsp: ENSP00000311493.2:p.Thr796Ala
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.172A>G
  hgvsp: ENSP00000387896.2:p.Thr58Ala
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.274A>G
  hgvsp: ENSP00000384597.3:p.Thr92Ala
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2386A>G
  hgvsp: ENSP00000385499.1:p.Thr796Ala
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.172A>G
  hgvsp: ENSP00000412645.1:p.Thr58Ala
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4002T>C
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.385A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2386A>G
  hgvsp: ENSP00000385701.1:p.Thr796Ala
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4025A>G
  variant of: http://identifiers.org/hgnc/30651
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr92Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

2-48869568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869568
    reference: chr 2
allele count: 6
allele frequency: 5.425052894265719e-5
allele num: 110598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2387C>T
  hgvsp: ENSP00000385499.1:p.Thr796Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.302C>T
  hgvsp: ENSP00000396702.1:p.Thr101Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.173C>T
  hgvsp: ENSP00000387896.2:p.Thr58Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2387C>T
  hgvsp: ENSP00000385701.1:p.Thr796Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.173C>T
  hgvsp: ENSP00000412645.1:p.Thr58Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2387C>T
  hgvsp: ENSP00000311493.2:p.Thr796Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2387C>T
  hgvsp: ENSP00000378236.1:p.Thr796Ile
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.275C>T
  hgvsp: ENSP00000384597.3:p.Thr92Ile
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4024C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+4001G>A
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.386C>T
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr92Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

2-48869570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869570
    reference: chr 2
allele count: 2
allele frequency: 1.807468459675379e-5
allele num: 110652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+3999G>A
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2389C>T
  hgvsp: ENSP00000378236.1:p.Leu797Phe
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.277C>T
  hgvsp: ENSP00000384597.3:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2389C>T
  hgvsp: ENSP00000385499.1:p.Leu797Phe
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.388C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2389C>T
  hgvsp: ENSP00000311493.2:p.Leu797Phe
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4022C>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.304C>T
  hgvsp: ENSP00000396702.1:p.Leu102Phe
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2389C>T
  hgvsp: ENSP00000385701.1:p.Leu797Phe
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.175C>T
  hgvsp: ENSP00000387896.2:p.Leu59Phe
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.175C>T
  hgvsp: ENSP00000412645.1:p.Leu59Phe
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu93Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-48869573-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869573
    reference: chr 2
allele count: 3
allele frequency: 2.718671838184652e-5
allele num: 110348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2392C>A
  hgvsp: ENSP00000385499.1:p.Pro798Thr
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2392C>A
  hgvsp: ENSP00000311493.2:p.Pro798Thr
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.391C>A
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.307C>A
  hgvsp: ENSP00000396702.1:p.Pro103Thr
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.178C>A
  hgvsp: ENSP00000412645.1:p.Pro60Thr
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.178C>A
  hgvsp: ENSP00000387896.2:p.Pro60Thr
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2392C>A
  hgvsp: ENSP00000385701.1:p.Pro798Thr
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4019C>A
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2392C>A
  hgvsp: ENSP00000378236.1:p.Pro798Thr
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.280C>A
  hgvsp: ENSP00000384597.3:p.Pro94Thr
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+3996G>T
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*24C>A
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro94Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

2-48869575-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869575
    reference: chr 2
allele count: 1
allele frequency: 9.054198431812831e-6
allele num: 110446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4017A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2394A>T
  hgvsp: ENST00000309827.2:c.2394A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*26A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.180A>T
  hgvsp: ENST00000430487.2:c.180A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.309A>T
  hgvsp: ENST00000437125.1:c.309A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+3994T>A
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.180A>T
  hgvsp: ENST00000448460.1:c.180A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2394A>T
  hgvsp: ENST00000405008.1:c.2394A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2394A>T
  hgvsp: ENST00000402114.2:c.2394A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2394A>T
  hgvsp: ENST00000394754.1:c.2394A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.282A>T
  hgvsp: ENST00000403751.3:c.282A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.393A>T
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro94Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

2-48869587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869587
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869587
    reference: chr 2
allele count: 1
allele frequency: 9.130585635762679e-6
allele num: 109522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.321A>G
  hgvsp: ENST00000437125.1:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2406A>G
  hgvsp: ENST00000405008.1:c.2406A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2406A>G
  hgvsp: ENST00000394754.1:c.2406A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.294A>G
  hgvsp: ENST00000403751.3:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2406A>G
  hgvsp: ENST00000309827.2:c.2406A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2406A>G
  hgvsp: ENST00000402114.2:c.2406A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4005A>G
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.405A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*38A>G
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+3982T>C
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.192A>G
  hgvsp: ENST00000448460.1:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.192A>G
  hgvsp: ENST00000430487.2:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35615
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr98Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-48869592-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48869592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48869592
    reference: chr 2
allele count: 1
allele frequency: 9.201833005134623e-6
allele num: 108674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000311493
  ensembl transcript: ENST00000309827
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000309827.2:c.2411A>T
  hgvsp: ENSP00000311493.2:p.Glu804Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385701
  ensembl transcript: ENST00000402114
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000402114.2:c.2411A>T
  hgvsp: ENSP00000385701.1:p.Glu804Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378234
  ensembl transcript: ENST00000394751
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394751.3:c.2360-4000A>T
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000378236
  ensembl transcript: ENST00000394754
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000394754.1:c.2411A>T
  hgvsp: ENSP00000378236.1:p.Glu804Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068781
  ensembl protein: ENSP00000385499
  ensembl transcript: ENST00000405008
  gene symbol: STON1-GTF2A1L
  hgvsc: ENST00000405008.1:c.2411A>T
  hgvsp: ENSP00000385499.1:p.Glu804Val
  variant of: http://identifiers.org/hgnc/30651
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000396702
  ensembl transcript: ENST00000437125
  gene symbol: GTF2A1L
  hgvsc: ENST00000437125.1:c.326A>T
  hgvsp: ENSP00000396702.1:p.Glu109Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000387896
  ensembl transcript: ENST00000430487
  gene symbol: GTF2A1L
  hgvsc: ENST00000430487.2:c.197A>T
  hgvsp: ENSP00000387896.2:p.Glu66Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138039
  ensembl transcript: ENST00000420913
  gene symbol: LHCGR
  hgvsc: ENST00000420913.3:n.372+3977T>A
  variant of: http://identifiers.org/hgnc/6585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000394793
  ensembl transcript: ENST00000423675
  gene symbol: GTF2A1L
  hgvsc: ENST00000423675.1:c.*43A>T
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000384597
  ensembl transcript: ENST00000403751
  gene symbol: GTF2A1L
  hgvsc: ENST00000403751.3:c.299A>T
  hgvsp: ENSP00000384597.3:p.Glu100Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242441
  ensembl protein: ENSP00000412645
  ensembl transcript: ENST00000448460
  gene symbol: GTF2A1L
  hgvsc: ENST00000448460.1:c.197A>T
  hgvsp: ENSP00000412645.1:p.Glu66Val
  variant of: http://identifiers.org/hgnc/30727
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242441
  ensembl transcript: ENST00000468326
  gene symbol: GTF2A1L
  hgvsc: ENST00000468326.1:n.410A>T
  variant of: http://identifiers.org/hgnc/30727
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu100Val
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1047
bin: 4.75e1
variant carriers: 24

GenotypeQuality
all individuals: 330
bin: 7.5e0
variant carriers: 73

GenotypeQuality
all individuals: 1886
bin: 2.25e1
variant carriers: 42

GenotypeQuality
all individuals: 5800
bin: 9.75e1
variant carriers: 60

GenotypeQuality
all individuals: 1002
bin: 3.75e1
variant carriers: 19

GenotypeQuality
all individuals: 984
bin: 4.25e1
variant carriers: 15

GenotypeQuality
all individuals: 365
bin: 1.75e1
variant carriers: 59

GenotypeQuality
all individuals: 932
bin: 3.25e1
variant carriers: 20

GenotypeQuality
all individuals: 1232
bin: 5.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1058
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1173
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1390
bin: 2.5e0
variant carriers: 56

GenotypeQuality
all individuals: 1748
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1716
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 2064
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 748
bin: 2.75e1
variant carriers: 30

GenotypeQuality
all individuals: 31169
bin: 6.25e1
variant carriers: 20

GenotypeQuality
all individuals: 4484
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1271
bin: 8.75e1
variant carriers: 10

South Asian
type: Population
allele count: 35
allele frequency: 2.234708210956455e-3
allele num: 15662
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.965163445478406e-4
allele num: 8382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.397515527950311e-3
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 194
allele frequency: 3.126611655492522e-3
allele num: 62048
num of homozygotes: 1

African
type: Population
allele count: 18
allele frequency: 1.901140684410646e-3
allele num: 9468
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.570874145259656e-3
allele num: 10822
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: -6.257e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.027e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 1.650998e6

FS
type: SiteQuality
SIO_000300: 9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

GenotypeQuality
all individuals: 1886
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5800
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193032689095681e-4
allele num: 8382
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.240436148586214e-5
allele num: 10822
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.384880602732728e-5
allele num: 15662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.446621970087674e-5
allele num: 62048
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.650998e6

MQ
type: SiteQuality
SIO_000300: 6.027e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 9.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.257e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 551
bin: 4.25e1
variant carriers: 317

GenotypeQuality
all individuals: 270
bin: 1.25e1
variant carriers: 201

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 317

GenotypeQuality
all individuals: 584
bin: 3.75e1
variant carriers: 262

GenotypeQuality
all individuals: 543
bin: 5.25e1
variant carriers: 328

GenotypeQuality
all individuals: 507
bin: 5.75e1
variant carriers: 283

GenotypeQuality
all individuals: 29954
bin: 6.25e1
variant carriers: 303

GenotypeQuality
all individuals: 1019
bin: 7.25e1
variant carriers: 323

GenotypeQuality
all individuals: 1498
bin: 2.25e1
variant carriers: 252

GenotypeQuality
all individuals: 650
bin: 3.25e1
variant carriers: 279

GenotypeQuality
all individuals: 933
bin: 7.75e1
variant carriers: 302

GenotypeQuality
all individuals: 281
bin: 7.5e0
variant carriers: 179

GenotypeQuality
all individuals: 609
bin: 4.75e1
variant carriers: 303

GenotypeQuality
all individuals: 291
bin: 1.75e1
variant carriers: 228

GenotypeQuality
all individuals: 3300
bin: 6.75e1
variant carriers: 265

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 257

GenotypeQuality
all individuals: 543
bin: 2.75e1
variant carriers: 258

GenotypeQuality
all individuals: 17085
bin: 9.75e1
variant carriers: 15820

GenotypeQuality
all individuals: 712
bin: 8.25e1
variant carriers: 311

South Asian
type: Population
allele count: 3841
allele frequency: 2.404231347020531e-1
allele num: 15976
num of homozygotes: 396

European (Finnish)
type: Population
allele count: 1490
allele frequency: 2.310077519379845e-1
allele num: 6450
num of homozygotes: 137

Latino
type: Population
allele count: 1880
allele frequency: 1.684285970256227e-1
allele num: 11162
num of homozygotes: 112

African
type: Population
allele count: 1043
allele frequency: 1.066680302720393e-1
allele num: 9778
num of homozygotes: 42

Other
type: Population
allele count: 181
allele frequency: 2.085253456221198e-1
allele num: 868
num of homozygotes: 10

East Asian
type: Population
allele count: 505
allele frequency: 6.003328578221588e-2
allele num: 8412
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 12700
allele frequency: 1.993657969922451e-1
allele num: 63702
num of homozygotes: 898

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

DP
type: SiteQuality
SIO_000300: 1.695583e6

FS
type: SiteQuality
SIO_000300: 7.43e-1

MQ
type: SiteQuality
SIO_000300: 6.019e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.877e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 7.86e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

GenotypeDepth
all individuals: 691
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44812
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5928
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

FS
type: SiteQuality
SIO_000300: 2.267e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.002e0

DP
type: SiteQuality
SIO_000300: 1.572252e6

GenotypeQuality
all individuals: 1444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6010
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 7.609e0

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

DP
type: SiteQuality
SIO_000300: 1.584515e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 46958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 824
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1332
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.658746797111577e-4
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 1.586828e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.706e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 9.57e0

GenotypeDepth
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47354
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 66526
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African
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European (Finnish)
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VQSLOD
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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MQRankSum
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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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66562
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South Asian
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Other
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East Asian
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Latino
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European (Finnish)
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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DP
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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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South Asian
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East Asian
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African
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Latino
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European (Finnish)
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Other
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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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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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 2.49e0

QD
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DP
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VQSLOD
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FS
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MQRankSum
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SIO_000300: 2.09e0

ReadPosRankSum
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SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeDepth
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variant carriers: 0

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

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

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

South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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FS
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.599247e6

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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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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allele num: 8648
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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African
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European (Non-Finnish)
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: -2.5e-2

QD
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GenotypeDepth
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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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GenotypeQuality
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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: 10398
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.099643060679685e-4
allele num: 66678
num of homozygotes: 0

South Asian
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num of homozygotes: 0

European (Finnish)
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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QD
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SIO_000300: 1.18e1

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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variant carriers: 0

African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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BaseQRankSum
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QD
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FS
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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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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variant carriers: 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
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num of homozygotes: 0

Other
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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MQ
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FS
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QD
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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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variant carriers: 0

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

Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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FS
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MQRankSum
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MQ
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QD
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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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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ClippingRankSum
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SIO_000300: -1.699e0

InbreedingCoeff
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SIO_000300: 8.6e-3

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 9.26e-1

DP
type: SiteQuality
SIO_000300: 1.598828e6

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 1.499880009599232e-5
allele num: 66672
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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SIO_000300: -2.3e-2

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 2.3e-2

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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East Asian
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FS
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.001e0

ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.999340072592015e-5
allele num: 66674
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
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 (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

FS
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SIO_000300: 1.745e0

MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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SIO_000300: 1.599208e6

ClippingRankSum
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SIO_000300: -7.9e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

East Asian
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Other
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Latino
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num of homozygotes: 0

South Asian
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allele num: 16480
num of homozygotes: 0

African
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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MQ
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8648
num of homozygotes: 0

Latino
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Other
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South Asian
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allele frequency: 6.070171178827243e-5
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num of homozygotes: 0

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

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

Latino
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allele frequency: 1.735207357279195e-4
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South Asian
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European (Non-Finnish)
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African
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Other
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East Asian
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: 6.62e-1

DP
type: SiteQuality
SIO_000300: 1.596795e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

FS
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1253
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 34
bin: 3.75e1
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GenotypeQuality
all individuals: 47899
bin: 6.25e1
variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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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

FS
type: SiteQuality
SIO_000300: 2.88e0

DP
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SIO_000300: 1.596365e6

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
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SIO_000300: 8.169999999999999e-1

MQRankSum
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SIO_000300: 1.19e0

InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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SIO_000300: 1.435e1

ClippingRankSum
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SIO_000300: -2.638e0

VQSLOD
type: SiteQuality
SIO_000300: -2.342e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

Latino
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allele count: 4
allele frequency: 3.472222222222222e-4
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

MQRankSum
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SIO_000300: 7.69e-1

ClippingRankSum
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SIO_000300: -3.8e-2

QD
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SIO_000300: 1.308e1

FS
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
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SIO_000300: 1.11e0

DP
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SIO_000300: 1.594933e6

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10366
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.019e0

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 1.594582e6

QD
type: SiteQuality
SIO_000300: 1.421e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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variant carriers: 0

East Asian
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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: 6588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.554425383330803e-5
allele num: 65870
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 6.3e-3

BaseQRankSum
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SIO_000300: -9.92e-1

ReadPosRankSum
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QD
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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DP
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SIO_000300: 1.575164e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
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South Asian
type: Population
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Other
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.848335631278314e-5
allele num: 10154
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65254
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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MQ
type: SiteQuality
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FS
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QD
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65254
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.183527083848628e-5
allele num: 16172
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

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

African
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1109
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5235
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2472
bin: 9.75e1
variant carriers: 386

GenotypeQuality
all individuals: 1204
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 2.745576571079927e-3
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.050943063634761e-4
allele num: 11346
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.938558487593541e-4
allele num: 10156
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 1.545881770962157e-3
allele num: 16172
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.454342984409799e-3
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 331
allele frequency: 5.073107929988045e-3
allele num: 65246
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

DP
type: SiteQuality
SIO_000300: 1.552023e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5074
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 9.75e1
variant carriers: 8

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.231148045552478e-4
allele num: 64980
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.577e0

QD
type: SiteQuality
SIO_000300: 1.101e1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.533368e6

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 3.986e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3204
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1088
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177024482109228e-4
allele num: 8496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64992
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.083e0

DP
type: SiteQuality
SIO_000300: 1.532369e6

VQSLOD
type: SiteQuality
SIO_000300: -5.19e-2

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

GenotypeQuality
all individuals: 663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39326
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1732
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4666
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563574957783476e-5
allele num: 63956
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.711e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 6.2e0

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.136e0

DP
type: SiteQuality
SIO_000300: 1.469569e6

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1697
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6109
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4502
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568676664365941e-5
allele num: 63748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 1.903e1

MQ
type: SiteQuality
SIO_000300: 5.742e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.455123e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.881e0

VQSLOD
type: SiteQuality
SIO_000300: -7.538e-1

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7848
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33986
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.329915179136599e-5
allele num: 15798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.295e1

DP
type: SiteQuality
SIO_000300: 1.400215e6

GenotypeQuality
all individuals: 2081
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 387
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 525
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8839
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2966
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3942
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 547
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62968
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.069995906672124e-4
allele num: 9772
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 3.097e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

DP
type: SiteQuality
SIO_000300: 1.361439e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
all individuals: 360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 605
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6891
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21739
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 956
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.247272054743851e-5
allele num: 10814
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62164
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.876e0

QD
type: SiteQuality
SIO_000300: 1.024e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.883e0

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.249596e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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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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variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617024028977071e-5
allele num: 61842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
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SIO_000300: -1.157e0

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.729e1

VQSLOD
type: SiteQuality
SIO_000300: -6.995e-1

BaseQRankSum
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SIO_000300: -3.287e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.24e-1

DP
type: SiteQuality
SIO_000300: 1.221175e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.619852917355104e-5
allele num: 61734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
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SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.195163e6

QD
type: SiteQuality
SIO_000300: 1.117e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -4.119e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.665e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2109
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variant carriers: 1

GenotypeQuality
all individuals: 13809
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637304342131115e-5
allele num: 61076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10646
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.598e1

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.161842e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 607
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GenotypeQuality
all individuals: 577
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14826
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.704797299601078e-5
allele num: 58658
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 1.111336e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.159e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 1.236e0

QD
type: SiteQuality
SIO_000300: 1.088e1

GenotypeDepth
all individuals: 187
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variant carriers: 3

GenotypeQuality
all individuals: 258
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.348978491989613e-5
allele num: 40822
num of homozygotes: 0

African
type: Population
allele count: 236
allele frequency: 3.774792066538708e-2
allele num: 6252
num of homozygotes: 5

Latino
type: Population
allele count: 17
allele frequency: 1.789850494841019e-3
allele num: 9498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4238
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
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SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 8.26e-1

QD
type: SiteQuality
SIO_000300: 1.646e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.086812e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

GenotypeDepth
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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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GenotypeQuality
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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: 1
allele frequency: 1.532332209623046e-4
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 3.44e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2320
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GenotypeQuality
all individuals: 339
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13368
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.017293997965412e-4
allele num: 9830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.233338e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 2.239741981723705e-5
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European (Finnish)
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InbreedingCoeff
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FS
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 1.996805111821086e-4
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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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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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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East Asian
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Latino
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Other
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European (Finnish)
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African
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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African
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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BaseQRankSum
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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Latino
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East Asian
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Other
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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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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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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South Asian
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FS
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.681124335955887e-5
allele num: 59484
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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DP
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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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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Latino
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allele frequency: 9.278159213212098e-5
allele num: 10778
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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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 59484
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Other
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num of homozygotes: 0

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

QD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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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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African
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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: 6118
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59788
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 1
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allele num: 10794
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Other
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VQSLOD
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SIO_000300: -1.707e0

DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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SIO_000300: 5.934e1

FS
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SIO_000300: 2.419e0

ClippingRankSum
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SIO_000300: 5.92e-1

GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59954
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 15458
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East Asian
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.666666666666667e-5
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South Asian
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African
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East Asian
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European (Finnish)
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Other
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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

South Asian
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East Asian
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Other
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Latino
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African
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European (Non-Finnish)
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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African
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num of homozygotes: 0

East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 60058
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Latino
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South Asian
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MQRankSum
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DP
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FS
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3658
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 565
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.48760866744518e-5
allele num: 15414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.844678103670909e-4
allele num: 10842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59828
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.471418e6

FS
type: SiteQuality
SIO_000300: 4.757e0

QD
type: SiteQuality
SIO_000300: 1.146e1

GenotypeDepth
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 913
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 382
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6540
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15426
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

DP
type: SiteQuality
SIO_000300: 1.471847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 9.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 1.031e1

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.187e-1

GenotypeDepth
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7880
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.687991627561527e-5
allele num: 59242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

DP
type: SiteQuality
SIO_000300: 1.453932e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.877e0

FS
type: SiteQuality
SIO_000300: 4.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0