http://identifiers.org/exac.variant/4-1369973-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1369973
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1369973
    reference: chr 4
allele count: 1
allele frequency: 1.067213079763506e-5
allele num: 93702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.221+17C>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.135+17C>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1568+17C>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1568+17C>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1568+17C>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.221+17C>A
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15669
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17970
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

4-1369980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1369980
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1369980
    reference: chr 4
allele count: 3
allele frequency: 3.240650722665111e-5
allele num: 92574
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1568+24C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1568+24C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.221+24C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1568+24C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.221+24C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.135+24C>T
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15713
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6067
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

4-1369981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1369981
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1369981
    reference: chr 4
allele count: 1
allele frequency: 1.082180810769863e-5
allele num: 92406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1568+25G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1568+25G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.221+25G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1568+25G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.221+25G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.135+25G>A
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

4-1369984-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1369984
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1369984
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 91940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.221+28C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.135+28C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1568+28C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1568+28C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.221+28C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1568+28C>G
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11714
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

4-1369986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1369986
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1369986
    reference: chr 4
allele count: 1
allele frequency: 1.088802752493358e-5
allele num: 91844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1568+30G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.221+30G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1568+30G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.221+30G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.135+30G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1568+30G>A
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

4-1369992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1369992
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1369992
    reference: chr 4
allele count: 58
allele frequency: 6.374186741691577e-4
allele num: 90992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1568+36A>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.135+36A>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.221+36A>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1568+36A>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1568+36A>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.221+36A>G
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18430
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

4-1369992-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1369992
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1369992
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 90992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.221+36A>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1568+36A>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1568+36A>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.221+36A>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.135+36A>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1568+36A>T
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-1369993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1369993
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1369993
    reference: chr 4
allele count: 1
allele frequency: 1.106512935136212e-5
allele num: 90374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1568+37C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1568+37C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.221+37C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.221+37C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.135+37C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1568+37C>T
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13040
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7716
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.75e1
  variant carriers: 1
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: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

4-1370001-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1370001
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1370001
    reference: chr 4
allele count: 1
allele frequency: 1.137061378573215e-5
allele num: 87946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1568+45G>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.135+45G>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1568+45G>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.221+45G>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1568+45G>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.221+45G>T
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

4-1373786-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373786
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373786
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 25776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-49C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-49C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-49C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-49C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-49C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-49C>G
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21140
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25385
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9827
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

4-1373789-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373789
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373789
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 25880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-46C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-46C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-46C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-46C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-46C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-46C>G
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25616
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7453
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14231
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

4-1373803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373803
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373803
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 28320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-32G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-32G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-32G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-32G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-32G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-32G>A
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30491
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5554
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

4-1373806-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373806
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373806
    reference: chr 4
allele count: 2
allele frequency: 6.903693476009665e-5
allele num: 28970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-29G>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-29G>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-29G>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-29G>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-29G>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-29G>C
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11692
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

4-1373815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373815
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373815
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 32548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-20G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-20G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-20G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-20G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-20G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-20G>A
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34531
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

4-1373817-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373817
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373817
    reference: chr 4
allele count: 1
allele frequency: 2.972828348891135e-5
allele num: 33638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-18C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-18C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-18C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-18C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-18C>G
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-18C>G
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

4-1373819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373819
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373819
    reference: chr 4
allele count: 2
allele frequency: 5.79609343302614e-5
allele num: 34506
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-16C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-16C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-16C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-16C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-16C>T
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-16C>T
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6921
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

4-1373820-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373820
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373820
    reference: chr 4
allele count: 2
allele frequency: 5.702554744525547e-5
allele num: 35072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-15T>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-15T>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-15T>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-15T>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-15T>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-15T>A
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7088
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35471
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

4-1373821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373821
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373821
    reference: chr 4
allele count: 1
allele frequency: 2.805836139169473e-5
allele num: 35640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-14G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-14G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-14G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-14G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-14G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-14G>A
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

4-1373825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373825
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373825
    reference: chr 4
allele count: 2
allele frequency: 5.161823155938678e-5
allele num: 38746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-10G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-10G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-10G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-10G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-10G>A
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-10G>A
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35331
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5028
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

4-1373828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373828
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373828
    reference: chr 4
allele count: 1
allele frequency: 2.460145640621925e-5
allele num: 40648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-7T>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-7T>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-7T>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-7T>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-7T>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-7T>C
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1569-7T>C
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/4-1373833-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373833
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373833
    reference: chr 4
allele count: 1
allele frequency: 2.207602984679235e-5
allele num: 45298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1569-2A>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.136-2A>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1569-2A>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1569-2A>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.222-2A>C
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.222-2A>C
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1569-2A>C
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

4-1373844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373844
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373844
    reference: chr 4
allele count: 1
allele frequency: 1.756728269271309e-5
allele num: 56924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.231C>T
  hgvsp: ENST00000512728.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1578C>T
  hgvsp: ENST00000507531.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.231C>T
  hgvsp: ENST00000511563.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1578C>T
  hgvsp: ENST00000389851.4:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.145C>T
  hgvsp: ENST00000503548.1:c.145C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1578C>T
  hgvsp: ENST00000511216.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser526Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

4-1373848-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373848
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373848
    reference: chr 4
allele count: 19
allele frequency: 3.043018674525129e-4
allele num: 62438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.149C>G
  hgvsp: ENSP00000422795.1:p.His51Asp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1582C>G
  hgvsp: ENSP00000421741.1:p.His528Asp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1582C>G
  hgvsp: ENSP00000425130.1:p.His528Asp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.235C>G
  hgvsp: ENSP00000427701.1:p.His79Asp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1582C>G
  hgvsp: ENSP00000374501.4:p.His528Asp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.235C>G
  hgvsp: ENSP00000423340.1:p.His79Asp
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27283
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18205
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His528Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

4-1373851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373851
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373851
    reference: chr 4
allele count: 1
allele frequency: 1.534730961662421e-5
allele num: 65158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1585C>T
  hgvsp: ENSP00000425130.1:p.Arg529Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.152C>T
  hgvsp: ENSP00000422795.1:p.Arg52Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1585C>T
  hgvsp: ENSP00000421741.1:p.Arg529Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1585C>T
  hgvsp: ENSP00000374501.4:p.Arg529Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.238C>T
  hgvsp: ENSP00000427701.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.238C>T
  hgvsp: ENSP00000423340.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg529Cys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

4-1373852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373852
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373852
    reference: chr 4
allele count: 2
allele frequency: 2.993295019157088e-5
allele num: 66816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.239G>A
  hgvsp: ENSP00000423340.1:p.Arg80His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1586G>A
  hgvsp: ENSP00000425130.1:p.Arg529His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.239G>A
  hgvsp: ENSP00000427701.1:p.Arg80His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1586G>A
  hgvsp: ENSP00000421741.1:p.Arg529His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1586G>A
  hgvsp: ENSP00000374501.4:p.Arg529His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.153G>A
  hgvsp: ENSP00000422795.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg529His
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

4-1373863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373863
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373863
    reference: chr 4
allele count: 1
allele frequency: 1.303814962580511e-5
allele num: 76698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1597C>T
  hgvsp: ENSP00000421741.1:p.Pro533Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.250C>T
  hgvsp: ENSP00000427701.1:p.Pro84Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1597C>T
  hgvsp: ENSP00000425130.1:p.Pro533Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.164C>T
  hgvsp: ENSP00000422795.1:p.Pro56Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1597C>T
  hgvsp: ENSP00000374501.4:p.Pro533Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.250C>T
  hgvsp: ENSP00000423340.1:p.Pro84Ser
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro533Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

4-1373865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373865
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373865
    reference: chr 4
allele count: 3
allele frequency: 3.808556557064872e-5
allele num: 78770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1599C>T
  hgvsp: ENST00000511216.1:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.166C>T
  hgvsp: ENST00000503548.1:c.166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.252C>T
  hgvsp: ENST00000512728.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.252C>T
  hgvsp: ENST00000511563.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1599C>T
  hgvsp: ENST00000389851.4:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1599C>T
  hgvsp: ENST00000507531.1:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro533Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

4-1373866-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373866
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373866
    reference: chr 4
allele count: 1
allele frequency: 1.25624984296877e-5
allele num: 79602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.167A>G
  hgvsp: ENSP00000422795.1:p.Ser57Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1600A>G
  hgvsp: ENSP00000421741.1:p.Ser534Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.253A>G
  hgvsp: ENSP00000423340.1:p.Ser85Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1600A>G
  hgvsp: ENSP00000374501.4:p.Ser534Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.253A>G
  hgvsp: ENSP00000427701.1:p.Ser85Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1600A>G
  hgvsp: ENSP00000425130.1:p.Ser534Gly
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser534Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

4-1373868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373868
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373868
    reference: chr 4
allele count: 11
allele frequency: 1.356249845880699e-4
allele num: 81106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1602C>T
  hgvsp: ENST00000507531.1:c.1602C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.169C>T
  hgvsp: ENST00000503548.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.255C>T
  hgvsp: ENST00000512728.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.255C>T
  hgvsp: ENST00000511563.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1602C>T
  hgvsp: ENST00000389851.4:c.1602C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1602C>T
  hgvsp: ENST00000511216.1:c.1602C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser534Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

4-1373869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373869
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373869
    reference: chr 4
allele count: 4
allele frequency: 4.830334500664171e-5
allele num: 82810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.256G>A
  hgvsp: ENSP00000423340.1:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.170G>A
  hgvsp: ENSP00000422795.1:p.Glu58Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1603G>A
  hgvsp: ENSP00000421741.1:p.Glu535Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.256G>A
  hgvsp: ENSP00000427701.1:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1603G>A
  hgvsp: ENSP00000374501.4:p.Glu535Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1603G>A
  hgvsp: ENSP00000425130.1:p.Glu535Lys
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25986
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu535Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

4-1373873-TGGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373873
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373870
    reference: chr 4
allele count: 4
allele frequency: 4.623956719765103e-5
allele num: 86506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1614_1616delGGA
  hgvsp: ENSP00000421741.1:p.Glu539del
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1614_1616delGGA
  hgvsp: ENSP00000425130.1:p.Glu539del
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.267_269delGGA
  hgvsp: ENSP00000423340.1:p.Glu90del
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.267_269delGGA
  hgvsp: ENSP00000427701.1:p.Glu90del
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.181_183delGGA
  hgvsp: ENSP00000422795.1:p.Glu62del
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1614_1616delGGA
  hgvsp: ENSP00000374501.4:p.Glu539del
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27564
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu539del
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: TGGA
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

4-1373874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373874
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373874
    reference: chr 4
allele count: 4
allele frequency: 4.552801110883471e-5
allele num: 87858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.261G>A
  hgvsp: ENST00000511563.1:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.175G>A
  hgvsp: ENST00000503548.1:c.175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.261G>A
  hgvsp: ENST00000512728.1:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1608G>A
  hgvsp: ENST00000511216.1:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1608G>A
  hgvsp: ENST00000507531.1:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1608G>A
  hgvsp: ENST00000389851.4:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27888
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val536Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

4-1373876-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373876
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373876
    reference: chr 4
allele count: 1
allele frequency: 1.117193609652553e-5
allele num: 89510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.263A>G
  hgvsp: ENSP00000423340.1:p.Glu88Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1610A>G
  hgvsp: ENSP00000421741.1:p.Glu537Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.177A>G
  hgvsp: ENSP00000422795.1:p.Glu60Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.263A>G
  hgvsp: ENSP00000427701.1:p.Glu88Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1610A>G
  hgvsp: ENSP00000425130.1:p.Glu537Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1610A>G
  hgvsp: ENSP00000374501.4:p.Glu537Gly
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu537Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

4-1373879-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373879
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373880
    reference: chr 4
allele count: 2
allele frequency: 2.179598953792502e-5
allele num: 91760
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1615dupG
  hgvsp: ENSP00000425130.1:p.Glu539GlyfsTer23
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.182dupG
  hgvsp: ENSP00000422795.1:p.Glu62GlyfsTer23
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1615dupG
  hgvsp: ENSP00000374501.4:p.Glu539GlyfsTer23
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.268dupG
  hgvsp: ENSP00000423340.1:p.Glu90GlyfsTer23
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.268dupG
  hgvsp: ENSP00000427701.1:p.Glu90GlyfsTer23
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1615dupG
  hgvsp: ENSP00000421741.1:p.Glu539GlyfsTer23
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29750
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu539GlyfsTer23
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/4-1373879-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373879
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373879
    reference: chr 4
allele count: 2
allele frequency: 2.179598953792502e-5
allele num: 91760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.266A>C
  hgvsp: ENSP00000427701.1:p.Glu89Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1613A>C
  hgvsp: ENSP00000374501.4:p.Glu538Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1613A>C
  hgvsp: ENSP00000421741.1:p.Glu538Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.180A>C
  hgvsp: ENSP00000422795.1:p.Glu61Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.266A>C
  hgvsp: ENSP00000423340.1:p.Glu89Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1613A>C
  hgvsp: ENSP00000425130.1:p.Glu538Ala
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29750
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu538Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

4-1373885-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373885
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373885
    reference: chr 4
allele count: 1
allele frequency: 1.048987726843596e-5
allele num: 95330
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1619T>C
  hgvsp: ENSP00000374501.4:p.Val540Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.272T>C
  hgvsp: ENSP00000427701.1:p.Val91Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.186T>C
  hgvsp: ENSP00000422795.1:p.Val63Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1619T>C
  hgvsp: ENSP00000421741.1:p.Val540Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1619T>C
  hgvsp: ENSP00000425130.1:p.Val540Ala
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.272T>C
  hgvsp: ENSP00000423340.1:p.Val91Ala
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31204
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val540Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-1373886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373886
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373886
    reference: chr 4
allele count: 7
allele frequency: 7.290755322251386e-5
allele num: 96012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1620G>A
  hgvsp: ENST00000511216.1:c.1620G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1620G>A
  hgvsp: ENST00000507531.1:c.1620G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1620G>A
  hgvsp: ENST00000389851.4:c.1620G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.187G>A
  hgvsp: ENST00000503548.1:c.187G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.273G>A
  hgvsp: ENST00000512728.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.273G>A
  hgvsp: ENST00000511563.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11771
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31325
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Val540Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

4-1373888-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373888
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373888
    reference: chr 4
allele count: 1
allele frequency: 1.028870094861823e-5
allele num: 97194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.275T>G
  hgvsp: ENSP00000427701.1:p.Val92Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1622T>G
  hgvsp: ENSP00000374501.4:p.Val541Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.189T>G
  hgvsp: ENSP00000422795.1:p.Val64Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.275T>G
  hgvsp: ENSP00000423340.1:p.Val92Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1622T>G
  hgvsp: ENSP00000421741.1:p.Val541Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1622T>G
  hgvsp: ENSP00000425130.1:p.Val541Gly
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val541Gly
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

4-1373893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373893
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373893
    reference: chr 4
allele count: 1
allele frequency: 9.981434531770907e-6
allele num: 100186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1627G>A
  hgvsp: ENSP00000421741.1:p.Ala543Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.194G>A
  hgvsp: ENSP00000422795.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.280G>A
  hgvsp: ENSP00000427701.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1627G>A
  hgvsp: ENSP00000425130.1:p.Ala543Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.280G>A
  hgvsp: ENSP00000423340.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1627G>A
  hgvsp: ENSP00000374501.4:p.Ala543Thr
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala543Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

4-1373895-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373895
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373895
    reference: chr 4
allele count: 3
allele frequency: 2.961208172934557e-5
allele num: 101310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1629C>G
  hgvsp: ENST00000507531.1:c.1629C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1629C>G
  hgvsp: ENST00000389851.4:c.1629C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1629C>G
  hgvsp: ENST00000511216.1:c.1629C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.196C>G
  hgvsp: ENST00000503548.1:c.196C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.282C>G
  hgvsp: ENST00000512728.1:c.282C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.282C>G
  hgvsp: ENST00000511563.1:c.282C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33051
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala543Ala
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: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-1373895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373895
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373895
    reference: chr 4
allele count: 1
allele frequency: 9.870693909781857e-6
allele num: 101310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1629C>T
  hgvsp: ENST00000507531.1:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.282C>T
  hgvsp: ENST00000511563.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.196C>T
  hgvsp: ENST00000503548.1:c.196C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1629C>T
  hgvsp: ENST00000511216.1:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.282C>T
  hgvsp: ENST00000512728.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1629C>T
  hgvsp: ENST00000389851.4:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37400
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala543Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-1373896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373896
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373896
    reference: chr 4
allele count: 1
allele frequency: 9.759525296689568e-6
allele num: 102464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1630G>A
  hgvsp: ENSP00000425130.1:p.Asp544Asn
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1630G>A
  hgvsp: ENSP00000374501.4:p.Asp544Asn
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.283G>A
  hgvsp: ENSP00000427701.1:p.Asp95Asn
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1630G>A
  hgvsp: ENSP00000421741.1:p.Asp544Asn
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.283G>A
  hgvsp: ENSP00000423340.1:p.Asp95Asn
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.197G>A
  hgvsp: ENSP00000422795.1:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp544Asn
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

4-1373898-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373898
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373898
    reference: chr 4
allele count: 1
allele frequency: 9.632055480639568e-6
allele num: 103820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.285C>G
  hgvsp: ENSP00000427701.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1632C>G
  hgvsp: ENSP00000421741.1:p.Asp544Glu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.285C>G
  hgvsp: ENSP00000423340.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1632C>G
  hgvsp: ENSP00000425130.1:p.Asp544Glu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.199C>G
  hgvsp: ENSP00000422795.1:p.Asp67Glu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1632C>G
  hgvsp: ENSP00000374501.4:p.Asp544Glu
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp544Glu
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: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-1373903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373903
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373903
    reference: chr 4
allele count: 1
allele frequency: 9.464498665505687e-6
allele num: 105658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1637C>T
  hgvsp: ENSP00000425130.1:p.Ser546Phe
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.290C>T
  hgvsp: ENSP00000423340.1:p.Ser97Phe
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.204C>T
  hgvsp: ENSP00000422795.1:p.Ser69Phe
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1637C>T
  hgvsp: ENSP00000421741.1:p.Ser546Phe
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1637C>T
  hgvsp: ENSP00000374501.4:p.Ser546Phe
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.290C>T
  hgvsp: ENSP00000427701.1:p.Ser97Phe
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10992
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser546Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

4-1373905-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373905
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373905
    reference: chr 4
allele count: 1
allele frequency: 9.340731192437744e-6
allele num: 107058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.206G>T
  hgvsp: ENSP00000422795.1:p.Glu70Ter
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.292G>T
  hgvsp: ENSP00000423340.1:p.Glu98Ter
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1639G>T
  hgvsp: ENSP00000425130.1:p.Glu547Ter
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1639G>T
  hgvsp: ENSP00000374501.4:p.Glu547Ter
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1639G>T
  hgvsp: ENSP00000421741.1:p.Glu547Ter
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.292G>T
  hgvsp: ENSP00000427701.1:p.Glu98Ter
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu547Ter
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

4-1373906-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373906
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373906
    reference: chr 4
allele count: 4
allele frequency: 3.711470298958933e-5
allele num: 107774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1640A>G
  hgvsp: ENSP00000421741.1:p.Glu547Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.207A>G
  hgvsp: ENSP00000422795.1:p.Glu70Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.293A>G
  hgvsp: ENSP00000423340.1:p.Glu98Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.293A>G
  hgvsp: ENSP00000427701.1:p.Glu98Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1640A>G
  hgvsp: ENSP00000374501.4:p.Glu547Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1640A>G
  hgvsp: ENSP00000425130.1:p.Glu547Gly
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35186
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu547Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-1373911-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373911
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373911
    reference: chr 4
allele count: 1
allele frequency: 9.129918743723181e-6
allele num: 109530
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1645C>G
  hgvsp: ENSP00000374501.4:p.Leu549Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1645C>G
  hgvsp: ENSP00000425130.1:p.Leu549Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.212C>G
  hgvsp: ENSP00000422795.1:p.Leu72Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1645C>G
  hgvsp: ENSP00000421741.1:p.Leu549Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.298C>G
  hgvsp: ENSP00000423340.1:p.Leu100Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.298C>G
  hgvsp: ENSP00000427701.1:p.Leu100Val
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu549Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

4-1373914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373914
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373914
    reference: chr 4
allele count: 40
allele frequency: 3.61545970570158e-4
allele num: 110636
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1648C>T
  hgvsp: ENSP00000374501.4:p.Arg550Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.301C>T
  hgvsp: ENSP00000427701.1:p.Arg101Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1648C>T
  hgvsp: ENSP00000425130.1:p.Arg550Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1648C>T
  hgvsp: ENSP00000421741.1:p.Arg550Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.301C>T
  hgvsp: ENSP00000423340.1:p.Arg101Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.215C>T
  hgvsp: ENSP00000422795.1:p.Arg73Trp
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36406
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg550Trp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

4-1373915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373915
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373915
    reference: chr 4
allele count: 3
allele frequency: 2.688075696211605e-5
allele num: 111604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1649G>A
  hgvsp: ENSP00000425130.1:p.Arg550Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.216G>A
  hgvsp: ENSP00000422795.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.302G>A
  hgvsp: ENSP00000427701.1:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.302G>A
  hgvsp: ENSP00000423340.1:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1649G>A
  hgvsp: ENSP00000374501.4:p.Arg550Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1649G>A
  hgvsp: ENSP00000421741.1:p.Arg550Gln
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36883
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg550Gln
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

4-1373920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373920
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373920
    reference: chr 4
allele count: 3
allele frequency: 2.634028131420444e-5
allele num: 113894
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1654C>T
  hgvsp: ENSP00000374501.4:p.Arg552Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1654C>T
  hgvsp: ENSP00000421741.1:p.Arg552Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1654C>T
  hgvsp: ENSP00000425130.1:p.Arg552Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.221C>T
  hgvsp: ENSP00000422795.1:p.Arg75Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.307C>T
  hgvsp: ENSP00000427701.1:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.307C>T
  hgvsp: ENSP00000423340.1:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37991
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg552Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

4-1373921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373921
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373921
    reference: chr 4
allele count: 23
allele frequency: 2.012037231436769e-4
allele num: 114312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1655G>A
  hgvsp: ENSP00000421741.1:p.Arg552His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1655G>A
  hgvsp: ENSP00000374501.4:p.Arg552His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1655G>A
  hgvsp: ENSP00000425130.1:p.Arg552His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.222G>A
  hgvsp: ENSP00000422795.1:p.Arg75His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.308G>A
  hgvsp: ENSP00000427701.1:p.Arg103His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.308G>A
  hgvsp: ENSP00000423340.1:p.Arg103His
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg552His
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-1373936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373936
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373936
    reference: chr 4
allele count: 4
allele frequency: 3.426769926667123e-5
allele num: 116728
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1670C>T
  hgvsp: ENSP00000374501.4:p.Ala557Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1670C>T
  hgvsp: ENSP00000425130.1:p.Ala557Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.237C>T
  hgvsp: ENSP00000422795.1:p.Ala80Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1670C>T
  hgvsp: ENSP00000421741.1:p.Ala557Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.323C>T
  hgvsp: ENSP00000427701.1:p.Ala108Val
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.323C>T
  hgvsp: ENSP00000423340.1:p.Ala108Val
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala557Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

4-1373937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373937
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373937
    reference: chr 4
allele count: 10
allele frequency: 8.560471168333104e-5
allele num: 116816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.238C>T
  hgvsp: ENST00000503548.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1671C>T
  hgvsp: ENST00000507531.1:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.324C>T
  hgvsp: ENST00000511563.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1671C>T
  hgvsp: ENST00000511216.1:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.324C>T
  hgvsp: ENST00000512728.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1671C>T
  hgvsp: ENST00000389851.4:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39089
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15008
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala557Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

4-1373938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373938
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373938
    reference: chr 4
allele count: 2
allele frequency: 1.711127461884636e-5
allele num: 116882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.239G>A
  hgvsp: ENSP00000422795.1:p.Gly81Arg
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1672G>A
  hgvsp: ENSP00000425130.1:p.Gly558Arg
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1672G>A
  hgvsp: ENSP00000421741.1:p.Gly558Arg
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1672G>A
  hgvsp: ENSP00000374501.4:p.Gly558Arg
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.325G>A
  hgvsp: ENSP00000427701.1:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.325G>A
  hgvsp: ENSP00000423340.1:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15062
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly558Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

4-1373947-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373947
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373947
    reference: chr 4
allele count: 2
allele frequency: 1.707300416581302e-5
allele num: 117144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.334G>C
  hgvsp: ENSP00000423340.1:p.Glu112Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1681G>C
  hgvsp: ENSP00000374501.4:p.Glu561Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1681G>C
  hgvsp: ENSP00000421741.1:p.Glu561Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.334G>C
  hgvsp: ENSP00000427701.1:p.Glu112Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.248G>C
  hgvsp: ENSP00000422795.1:p.Glu84Gln
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1681G>C
  hgvsp: ENSP00000425130.1:p.Glu561Gln
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15258
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu561Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

4-1373952-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373952
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373952
    reference: chr 4
allele count: 1
allele frequency: 8.535044894336143e-6
allele num: 117164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.253T>A
  hgvsp: ENST00000503548.1:c.253T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1686T>A
  hgvsp: ENST00000507531.1:c.1686T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.339T>A
  hgvsp: ENST00000512728.1:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1686T>A
  hgvsp: ENST00000511216.1:c.1686T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1686T>A
  hgvsp: ENST00000389851.4:c.1686T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.339T>A
  hgvsp: ENST00000511563.1:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51382
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro562Pro
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-1373958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373958
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373958
    reference: chr 4
allele count: 1
allele frequency: 8.536210605388056e-6
allele num: 117148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1692G>A
  hgvsp: ENST00000389851.4:c.1692G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1692G>A
  hgvsp: ENST00000507531.1:c.1692G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1692G>A
  hgvsp: ENST00000511216.1:c.1692G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.345G>A
  hgvsp: ENST00000511563.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.259G>A
  hgvsp: ENST00000503548.1:c.259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.345G>A
  hgvsp: ENST00000512728.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51426
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln564Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

4-1373960-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373960
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373960
    reference: chr 4
allele count: 7
allele frequency: 5.976775956284153e-5
allele num: 117120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1694A>T
  hgvsp: ENSP00000425130.1:p.His565Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.347A>T
  hgvsp: ENSP00000427701.1:p.His116Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.261A>T
  hgvsp: ENSP00000422795.1:p.His88Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1694A>T
  hgvsp: ENSP00000421741.1:p.His565Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.347A>T
  hgvsp: ENSP00000423340.1:p.His116Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1694A>T
  hgvsp: ENSP00000374501.4:p.His565Leu
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51378
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His565Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

4-1373961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373961
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373961
    reference: chr 4
allele count: 1
allele frequency: 8.539126276599378e-6
allele num: 117108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.262C>T
  hgvsp: ENST00000503548.1:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.348C>T
  hgvsp: ENST00000511563.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.348C>T
  hgvsp: ENST00000512728.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1695C>T
  hgvsp: ENST00000507531.1:c.1695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1695C>T
  hgvsp: ENST00000511216.1:c.1695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1695C>T
  hgvsp: ENST00000389851.4:c.1695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51364
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His565His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-1373963-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373963
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373963
    reference: chr 4
allele count: 1
allele frequency: 8.542481761801439e-6
allele num: 117062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.350G>T
  hgvsp: ENSP00000427701.1:p.Trp117Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1697G>T
  hgvsp: ENSP00000425130.1:p.Trp566Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.350G>T
  hgvsp: ENSP00000423340.1:p.Trp117Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.264G>T
  hgvsp: ENSP00000422795.1:p.Trp89Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1697G>T
  hgvsp: ENSP00000421741.1:p.Trp566Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1697G>T
  hgvsp: ENSP00000374501.4:p.Trp566Leu
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15606
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Trp566Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

4-1373966-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373966
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373966
    reference: chr 4
allele count: 1
allele frequency: 8.553149269561053e-6
allele num: 116916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1700G>C
  hgvsp: ENSP00000421741.1:p.Cys567Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1700G>C
  hgvsp: ENSP00000425130.1:p.Cys567Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.353G>C
  hgvsp: ENSP00000423340.1:p.Cys118Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1700G>C
  hgvsp: ENSP00000374501.4:p.Cys567Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.353G>C
  hgvsp: ENSP00000427701.1:p.Cys118Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.267G>C
  hgvsp: ENSP00000422795.1:p.Cys90Ser
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys567Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-1373968-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373968
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373968
    reference: chr 4
allele count: 1
allele frequency: 8.553880895762407e-6
allele num: 116906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.269C>G
  hgvsp: ENSP00000422795.1:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1702C>G
  hgvsp: ENSP00000421741.1:p.Arg568Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.355C>G
  hgvsp: ENSP00000423340.1:p.Arg119Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1702C>G
  hgvsp: ENSP00000374501.4:p.Arg568Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1702C>G
  hgvsp: ENSP00000425130.1:p.Arg568Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.355C>G
  hgvsp: ENSP00000427701.1:p.Arg119Gly
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg568Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

4-1373968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373968
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373968
    reference: chr 4
allele count: 5
allele frequency: 4.276940447881204e-5
allele num: 116906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.355C>T
  hgvsp: ENSP00000427701.1:p.Arg119Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1702C>T
  hgvsp: ENSP00000374501.4:p.Arg568Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1702C>T
  hgvsp: ENSP00000425130.1:p.Arg568Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.355C>T
  hgvsp: ENSP00000423340.1:p.Arg119Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.269C>T
  hgvsp: ENSP00000422795.1:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1702C>T
  hgvsp: ENSP00000421741.1:p.Arg568Cys
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Arg568Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

4-1373969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373969
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373969
    reference: chr 4
allele count: 4
allele frequency: 3.424129843003647e-5
allele num: 116818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.356G>A
  hgvsp: ENSP00000427701.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.356G>A
  hgvsp: ENSP00000423340.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1703G>A
  hgvsp: ENSP00000425130.1:p.Arg568His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1703G>A
  hgvsp: ENSP00000421741.1:p.Arg568His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.270G>A
  hgvsp: ENSP00000422795.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1703G>A
  hgvsp: ENSP00000374501.4:p.Arg568His
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg568His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

4-1373971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373971
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373971
    reference: chr 4
allele count: 1
allele frequency: 8.568099252861745e-6
allele num: 116712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1705G>A
  hgvsp: ENSP00000425130.1:p.Ala569Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.358G>A
  hgvsp: ENSP00000423340.1:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1705G>A
  hgvsp: ENSP00000421741.1:p.Ala569Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1705G>A
  hgvsp: ENSP00000374501.4:p.Ala569Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.272G>A
  hgvsp: ENSP00000422795.1:p.Ala92Thr
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.358G>A
  hgvsp: ENSP00000427701.1:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15625
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala569Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-1373975-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373975
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373975
    reference: chr 4
allele count: 2
allele frequency: 1.718921892189219e-5
allele num: 116352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1709C>T
  hgvsp: ENSP00000374501.4:p.Pro570Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1709C>T
  hgvsp: ENSP00000421741.1:p.Pro570Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.362C>T
  hgvsp: ENSP00000423340.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.276C>T
  hgvsp: ENSP00000422795.1:p.Pro93Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1709C>T
  hgvsp: ENSP00000425130.1:p.Pro570Leu
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.362C>T
  hgvsp: ENSP00000427701.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro570Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

4-1373976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373976
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373976
    reference: chr 4
allele count: 17
allele frequency: 1.461008267587961e-4
allele num: 116358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.363G>A
  hgvsp: ENST00000511563.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.363G>A
  hgvsp: ENST00000512728.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.277G>A
  hgvsp: ENST00000503548.1:c.277G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1710G>A
  hgvsp: ENST00000507531.1:c.1710G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1710G>A
  hgvsp: ENST00000511216.1:c.1710G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1710G>A
  hgvsp: ENST00000389851.4:c.1710G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro570Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

4-1373977-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373977
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373977
    reference: chr 4
allele count: 2
allele frequency: 1.718360683907552e-5
allele num: 116390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.364A>G
  hgvsp: ENSP00000427701.1:p.Arg122Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1711A>G
  hgvsp: ENSP00000374501.4:p.Arg571Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1711A>G
  hgvsp: ENSP00000425130.1:p.Arg571Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.278A>G
  hgvsp: ENSP00000422795.1:p.Arg94Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.364A>G
  hgvsp: ENSP00000423340.1:p.Arg122Gly
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1711A>G
  hgvsp: ENSP00000421741.1:p.Arg571Gly
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg571Gly
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: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

4-1373978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373978
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373978
    reference: chr 4
allele count: 1
allele frequency: 8.612225915910226e-6
allele num: 116114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.365G>A
  hgvsp: ENSP00000423340.1:p.Arg122Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.279G>A
  hgvsp: ENSP00000422795.1:p.Arg94Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.365G>A
  hgvsp: ENSP00000427701.1:p.Arg122Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1712G>A
  hgvsp: ENSP00000421741.1:p.Arg571Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1712G>A
  hgvsp: ENSP00000374501.4:p.Arg571Lys
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1712G>A
  hgvsp: ENSP00000425130.1:p.Arg571Lys
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg571Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

4-1373979-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373979
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373979
    reference: chr 4
allele count: 1
allele frequency: 8.612522607871846e-6
allele num: 116110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.366G>C
  hgvsp: ENSP00000427701.1:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1713G>C
  hgvsp: ENSP00000374501.4:p.Arg571Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.366G>C
  hgvsp: ENSP00000423340.1:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1713G>C
  hgvsp: ENSP00000425130.1:p.Arg571Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.280G>C
  hgvsp: ENSP00000422795.1:p.Arg94Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1713G>C
  hgvsp: ENSP00000421741.1:p.Arg571Ser
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg571Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-1373985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373985
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373985
    reference: chr 4
allele count: 4
allele frequency: 3.459369702840143e-5
allele num: 115628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1719C>T
  hgvsp: ENST00000511216.1:c.1719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.286C>T
  hgvsp: ENST00000503548.1:c.286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.372C>T
  hgvsp: ENST00000512728.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1719C>T
  hgvsp: ENST00000389851.4:c.1719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1719C>T
  hgvsp: ENST00000507531.1:c.1719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.372C>T
  hgvsp: ENST00000511563.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp573Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-1373986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373986
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373986
    reference: chr 4
allele count: 11
allele frequency: 9.53371468192061e-5
allele num: 115380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1720G>A
  hgvsp: ENSP00000374501.4:p.Gly574Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.373G>A
  hgvsp: ENSP00000427701.1:p.Gly125Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1720G>A
  hgvsp: ENSP00000425130.1:p.Gly574Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.287G>A
  hgvsp: ENSP00000422795.1:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1720G>A
  hgvsp: ENSP00000421741.1:p.Gly574Ser
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.373G>A
  hgvsp: ENSP00000423340.1:p.Gly125Ser
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36269
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Gly574Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

4-1373989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1373989
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1373989
    reference: chr 4
allele count: 2
allele frequency: 1.738707097402371e-5
allele num: 115028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000427701
  ensembl transcript: ENST00000512728
  gene symbol: UVSSA
  hgvsc: ENST00000512728.1:c.376C>T
  hgvsp: ENSP00000427701.1:p.Arg126Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000374501
  ensembl transcript: ENST00000389851
  gene symbol: UVSSA
  hgvsc: ENST00000389851.4:c.1723C>T
  hgvsp: ENSP00000374501.4:p.Arg575Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000422795
  ensembl transcript: ENST00000503548
  gene symbol: UVSSA
  hgvsc: ENST00000503548.1:c.290C>T
  hgvsp: ENSP00000422795.1:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000423340
  ensembl transcript: ENST00000511563
  gene symbol: UVSSA
  hgvsc: ENST00000511563.1:c.376C>T
  hgvsp: ENSP00000423340.1:p.Arg126Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000421741
  ensembl transcript: ENST00000507531
  gene symbol: UVSSA
  hgvsc: ENST00000507531.1:c.1723C>T
  hgvsp: ENSP00000421741.1:p.Arg575Trp
  variant of: http://identifiers.org/hgnc/29304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163945
  ensembl protein: ENSP00000425130
  ensembl transcript: ENST00000511216
  gene symbol: UVSSA
  hgvsc: ENST00000511216.1:c.1723C>T
  hgvsp: ENSP00000425130.1:p.Arg575Trp
  variant of: http://identifiers.org/hgnc/29304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg575Trp
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 17768
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7394
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.530967411704488e-5
allele num: 11722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52544
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

DP
type: SiteQuality
SIO_000300: 9.90706e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.108e0

QD
type: SiteQuality
SIO_000300: 4.36e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 2267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4649
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.922929005461118e-5
allele num: 52004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.76242509693338e-4
allele num: 11348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

DP
type: SiteQuality
SIO_000300: 9.52866e5

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 17213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 648
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7416
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.855827134254339e-5
allele num: 11292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51920
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.47234e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.252e-1

FS
type: SiteQuality
SIO_000300: 4.255e0

GenotypeQuality
all individuals: 4969
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51758
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.414e0

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

FS
type: SiteQuality
SIO_000300: 1.6889e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.27786e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1365
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15413
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7410
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.36986301369863e-4
allele num: 7300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10998
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.23629e5

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.27e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

FS
type: SiteQuality
SIO_000300: 1.758e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 1932
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7573
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5294
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.75e1
variant carriers: 54

GenotypeQuality
all individuals: 143
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2851
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 9.930486593843098e-4
allele num: 4028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 6.423482695526921e-4
allele num: 51374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.0315659170621e-4
allele num: 9694
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.88040616773223e-3
allele num: 10636
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

DP
type: SiteQuality
SIO_000300: 8.92004e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.155e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 263
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2851
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5294
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4028
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 8.92004e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
all individuals: 1129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5853
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.955187111406562e-5
allele num: 51146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.218e0

QD
type: SiteQuality
SIO_000300: 5.43e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 8.83953e5

VQSLOD
type: SiteQuality
SIO_000300: -1.393e0

GenotypeQuality
all individuals: 8010
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6651
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7042
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49972
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.173e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

FS
type: SiteQuality
SIO_000300: 8.539e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 8.58783e5

GenotypeQuality
all individuals: 7705
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6892
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.75325e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.002e1

GenotypeQuality
all individuals: 1456
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.555e0

QD
type: SiteQuality
SIO_000300: 1.887e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.8036e5

GenotypeQuality
all individuals: 2677
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2984
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12736
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.349e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.4266e5

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 685
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.414627245720753e-4
allele num: 14138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.658e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.829e1

FS
type: SiteQuality
SIO_000300: 2.896e0

DP
type: SiteQuality
SIO_000300: 5.57017e5

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 457
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8270
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31557
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.124e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.07348e5

GenotypeQuality
all individuals: 1490
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7540
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.00672753483902e-5
allele num: 16648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.845e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.48e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.561e0

DP
type: SiteQuality
SIO_000300: 6.20616e5

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.084e0

FS
type: SiteQuality
SIO_000300: 3.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.171508903467666e-4
allele num: 17072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

DP
type: SiteQuality
SIO_000300: 6.30131e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

GenotypeQuality
all individuals: 1231
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8608
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1010
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 4.930966469428008e-4
allele num: 4056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.539e0

QD
type: SiteQuality
SIO_000300: 1.864e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.894e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

DP
type: SiteQuality
SIO_000300: 6.37369e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4090
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.324813631522897e-4
allele num: 1878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2182
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

DP
type: SiteQuality
SIO_000300: 6.44229e5

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -1.902e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.308e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.621072088724584e-4
allele num: 4328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1068
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

FS
type: SiteQuality
SIO_000300: 2.288e0

DP
type: SiteQuality
SIO_000300: 6.72639e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33625
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.897159647404505e-5
allele num: 20420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4472
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -1.553e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.299e1

DP
type: SiteQuality
SIO_000300: 6.89216e5

MQRankSum
type: SiteQuality
SIO_000300: -1.107e0

GenotypeQuality
all individuals: 530
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2417
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.327880204275946e-5
allele num: 23106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1346
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

DP
type: SiteQuality
SIO_000300: 7.32269e5

FS
type: SiteQuality
SIO_000300: 2.596e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.662e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
all individuals: 2194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17995
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.403846153846154e-4
allele num: 4160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29836
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.638e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 1.965e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 8.28262e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

GenotypeQuality
all individuals: 228
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 27285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20485
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.596310748492373e-3
allele num: 11276
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.127659574468085e-3
allele num: 470
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.772e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.077e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

DP
type: SiteQuality
SIO_000300: 8.73226e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2027
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 602
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.068680182043856e-4
allele num: 4834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34744
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.709e0

VQSLOD
type: SiteQuality
SIO_000300: -3.617e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.098e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

DP
type: SiteQuality
SIO_000300: 8.95681e5

QD
type: SiteQuality
SIO_000300: 2.955e1

GenotypeQuality
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25557
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.99203187250996e-3
allele num: 502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.799552071668533e-5
allele num: 35720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

QD
type: SiteQuality
SIO_000300: 8.49e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 9.07676e5

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

FS
type: SiteQuality
SIO_000300: 1.162e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 240
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25671
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.056719303899453e-5
allele num: 12412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.284e0

DP
type: SiteQuality
SIO_000300: 9.87953e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

FS
type: SiteQuality
SIO_000300: 5.395e0

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 2.516e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 1895
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1840
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.593371574251115e-4
allele num: 12552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.004919e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

FS
type: SiteQuality
SIO_000300: 1.7284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.57e-1

QD
type: SiteQuality
SIO_000300: 1.543e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: -2.305e0

GenotypeQuality
all individuals: 127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20027
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.310322521023935e-5
allele num: 43284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.462e0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 9.81e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.01079e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 659
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.75e1
variant carriers: 11

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 8.624745177983377e-4
allele num: 12754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44186
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.576e0

DP
type: SiteQuality
SIO_000300: 1.027358e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.998e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeQuality
all individuals: 198
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7176
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.328108024212323e-4
allele num: 12886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.213368747233289e-5
allele num: 45180
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.041133e6

QD
type: SiteQuality
SIO_000300: 2.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

FS
type: SiteQuality
SIO_000300: 2.718e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.254e0

GenotypeQuality
all individuals: 434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13224
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.964010920824026e-4
allele num: 8058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 1.075854e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

GenotypeQuality
all individuals: 600
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.444987775061124e-4
allele num: 8180
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.673082063619353e-4
allele num: 7482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13352
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.082824e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

FS
type: SiteQuality
SIO_000300: 7.14e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.52e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

GenotypeQuality
all individuals: 145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.037988098149507e-5
allele num: 49068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.752e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.096956e6

QD
type: SiteQuality
SIO_000300: 8.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.583e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 33613
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50470
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.464128843338214e-4
allele num: 13660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6966
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.115915e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

FS
type: SiteQuality
SIO_000300: 2.631e0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 1639
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.316423442205235e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6966
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.189e1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

FS
type: SiteQuality
SIO_000300: 2.631e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.115915e6

GenotypeQuality
all individuals: 280
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3892
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.251251251251251e-4
allele num: 7992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.126e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.34e1

DP
type: SiteQuality
SIO_000300: 1.149001e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.099e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.91e-1

GenotypeQuality
all individuals: 1047
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 6.217358865953743e-4
allele num: 8042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.092657342657343e-4
allele num: 9152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.891431813883109e-5
allele num: 52870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3960
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.412e0

FS
type: SiteQuality
SIO_000300: 1.904e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.15474e6

GenotypeQuality
all individuals: 12023
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2938
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.362769146906514e-4
allele num: 7338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

MQ
type: SiteQuality
SIO_000300: 5.682e1

VQSLOD
type: SiteQuality
SIO_000300: -1.396e0

DP
type: SiteQuality
SIO_000300: 1.164851e6

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
all individuals: 37876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.957973838018369e-5
allele num: 14372
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 9.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 8.318e0

MQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.004e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

DP
type: SiteQuality
SIO_000300: 1.196804e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.363e0

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9863
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37400
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.935974809761218e-4
allele num: 7622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55910
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.597e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.914e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 3.256e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

DP
type: SiteQuality
SIO_000300: 1.211721e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 5.56e0

GenotypeQuality
all individuals: 74
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55910
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 1.211721e6

FS
type: SiteQuality
SIO_000300: 3.256e0

VQSLOD
type: SiteQuality
SIO_000300: -9.597e-1

QD
type: SiteQuality
SIO_000300: 5.56e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 1205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.178411501296253e-4
allele num: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.253e1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.226089e6

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4586
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.283038234539389e-4
allele num: 7794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14754
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.77e-1

DP
type: SiteQuality
SIO_000300: 1.236917e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -4.608e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 2.351e0

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
all individuals: 135
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.813542688910697e-5
allele num: 10190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.696e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.259312e6

QD
type: SiteQuality
SIO_000300: 1.524e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.135331516802906e-4
allele num: 8808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

FS
type: SiteQuality
SIO_000300: 3.503e0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.126e0

MQ
type: SiteQuality
SIO_000300: 5.817e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.27731e6

GenotypeQuality
all individuals: 6790
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.508566275924256e-4
allele num: 8872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -1.909e0

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 1.3254e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

QD
type: SiteQuality
SIO_000300: 8.75e0

DP
type: SiteQuality
SIO_000300: 1.283556e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

GenotypeQuality
all individuals: 974
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.654369189028224e-5
allele num: 60446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.668e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 1.303689e6

VQSLOD
type: SiteQuality
SIO_000300: -1.108e0

GenotypeQuality
all individuals: 107
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 709
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61010
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.932242689681824e-4
allele num: 15526
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.262626262626263e-3
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.791736460078169e-4
allele num: 10746
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 3.619214740074578e-3
allele num: 9118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.389e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.321445e6

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 2.765e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

GenotypeQuality
all individuals: 3615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4769
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.6249593760156e-5
allele num: 61540
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.243852837862822e-5
allele num: 10818
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.204529029149603e-4
allele num: 8302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.332639e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 3667
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 158
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.321911746112024e-5
allele num: 15818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.182787485279608e-5
allele num: 62838
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.935e0

DP
type: SiteQuality
SIO_000300: 1.360762e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.126e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

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

GenotypeQuality
all individuals: 162
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 382
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48957
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63096
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 1.449275362318841e-3
allele num: 15870
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.153e0

DP
type: SiteQuality
SIO_000300: 1.369786e6

MQ
type: SiteQuality
SIO_000300: 5.91e1

FS
type: SiteQuality
SIO_000300: 1.763e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

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

GenotypeQuality
all individuals: 172
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50914
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 191
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.126452494873548e-4
allele num: 5852
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.210653753026634e-3
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.202e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.39644e6

FS
type: SiteQuality
SIO_000300: 6.713e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.852e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.75e1
variant carriers: 10

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.213495712687958e-5
allele num: 64376
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.343566908835247e-4
allele num: 8534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.852309212151148e-4
allele num: 16196
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.128e1

FS
type: SiteQuality
SIO_000300: 1.729e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.396935e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

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

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51165
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.171315724512466e-5
allele num: 16204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552795031055901e-5
allele num: 64400
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 5.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 1.5038e1

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 1.398071e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 51420
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64520
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.773993258825616e-4
allele num: 11274
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.399958e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.391e0

FS
type: SiteQuality
SIO_000300: 2.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.557e0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4096
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64508
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.571e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.401369e6

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.53e-1

FS
type: SiteQuality
SIO_000300: 9.45e-1

QD
type: SiteQuality
SIO_000300: 9.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

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

GenotypeQuality
all individuals: 353
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551253412757508e-5
allele num: 64464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.401845e6

FS
type: SiteQuality
SIO_000300: 7.646e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

QD
type: SiteQuality
SIO_000300: 9.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64444
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.200177147918512e-4
allele num: 11290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 2.505e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

DP
type: SiteQuality
SIO_000300: 1.400783e6

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1

GenotypeQuality
all individuals: 2213
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4099
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 727
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.86053517632465e-5
allele num: 11286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64434
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.716e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.400463e6

VQSLOD
type: SiteQuality
SIO_000300: -6.146e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.36e0

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 51319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552891483943102e-5
allele num: 64396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.400242e6

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.063e0

FS
type: SiteQuality
SIO_000300: 3.048e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

QD
type: SiteQuality
SIO_000300: 1.057e1

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

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.682935038707506e-4
allele num: 5942
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.397577e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 2.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555984315678098e-5
allele num: 64268
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
SIO_000300: 1.751e0

QD
type: SiteQuality
SIO_000300: 1.11e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 1.398007e6

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
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: 4
allele frequency: 6.223937262712393e-5
allele num: 64268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 1.398007e6

FS
type: SiteQuality
SIO_000300: 1.751e0

QD
type: SiteQuality
SIO_000300: 1.11e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50954
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024380249948781e-4
allele num: 9762
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.228501228501228e-4
allele num: 16280
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.91e-1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.397114e6

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 519
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.122e0

DP
type: SiteQuality
SIO_000300: 1.394866e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.63e-1

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3950
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563868384836732e-5
allele num: 63944
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.162e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 3.883e0

DP
type: SiteQuality
SIO_000300: 1.388894e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3951
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 287
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.502345949327494e-4
allele num: 63940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.691474966170501e-4
allele num: 5912
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 1.742e0

DP
type: SiteQuality
SIO_000300: 1.388996e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

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

GenotypeQuality
all individuals: 283
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.030290541932825e-4
allele num: 9706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 1.38816e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 7.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.146e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

GenotypeQuality
all individuals: 324
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566661444461852e-5
allele num: 63830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.721e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

DP
type: SiteQuality
SIO_000300: 1.383446e6

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566808723990975e-5
allele num: 63824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 1.653e0

QD
type: SiteQuality
SIO_000300: 1.223e1

DP
type: SiteQuality
SIO_000300: 1.383431e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.860119047619048e-4
allele num: 16128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573019568363431e-5
allele num: 63572
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.053e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

DP
type: SiteQuality
SIO_000300: 1.374741e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeQuality
all individuals: 48808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.944543828264758e-5
allele num: 11180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.576342255430499e-4
allele num: 63438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.36937e6