16-836262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836262
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836262
    reference: chr 16
allele count: 3
allele frequency: 2.508780732563974e-5
allele num: 119580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.240C>T
  hgvsp: ENST00000567114.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.240C>T
  hgvsp: ENST00000565377.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.627C>T
  hgvsp: ENST00000561734.1:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.627C>T
  hgvsp: ENST00000007264.2:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*128C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*350C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.249C>T
  hgvsp: ENST00000569601.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His209His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

16-836263-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836263
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836263
    reference: chr 16
allele count: 1
allele frequency: 8.364281173675934e-6
allele num: 119556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*349A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.248A>G
  hgvsp: ENSP00000454616.1:p.His83Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.239A>G
  hgvsp: ENSP00000456692.1:p.His80Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.626A>G
  hgvsp: ENSP00000455026.1:p.His209Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*210A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*127A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.239A>G
  hgvsp: ENSP00000455862.1:p.His80Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.626A>G
  hgvsp: ENSP00000007264.2:p.His209Arg
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His209Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

16-836272-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836272
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836272
    reference: chr 16
allele count: 12
allele frequency: 1.004570797126927e-4
allele num: 119454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*201T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*118T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.230T>C
  hgvsp: ENSP00000455862.1:p.Met77Thr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*340T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.239T>C
  hgvsp: ENSP00000454616.1:p.Met80Thr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.617T>C
  hgvsp: ENSP00000007264.2:p.Met206Thr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.230T>C
  hgvsp: ENSP00000456692.1:p.Met77Thr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.617T>C
  hgvsp: ENSP00000455026.1:p.Met206Thr
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 39732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met206Thr
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: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

16-836280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836280
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836280
    reference: chr 16
allele count: 3
allele frequency: 2.515681078724046e-5
allele num: 119252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.222G>A
  hgvsp: ENST00000565377.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*193G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.609G>A
  hgvsp: ENST00000007264.2:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.609G>A
  hgvsp: ENST00000561734.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*332G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.231G>A
  hgvsp: ENST00000569601.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.222G>A
  hgvsp: ENST00000567114.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*110G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro203Pro
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-836283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836283
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836283
    reference: chr 16
allele count: 1
allele frequency: 8.400537634408602e-6
allele num: 119040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*190G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.606G>A
  hgvsp: ENST00000007264.2:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.219G>A
  hgvsp: ENST00000565377.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.228G>A
  hgvsp: ENST00000569601.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.606G>A
  hgvsp: ENST00000561734.1:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.219G>A
  hgvsp: ENST00000567114.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*329G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg202Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

16-836284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836284
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836284
    reference: chr 16
allele count: 6
allele frequency: 5.040237899228844e-5
allele num: 119042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.605G>A
  hgvsp: ENSP00000007264.2:p.Arg202Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.218G>A
  hgvsp: ENSP00000455862.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.605G>A
  hgvsp: ENSP00000455026.1:p.Arg202Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.218G>A
  hgvsp: ENSP00000456692.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.227G>A
  hgvsp: ENSP00000454616.1:p.Arg76Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*328G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*189G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg202Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

16-836286-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836286
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836286
    reference: chr 16
allele count: 1
allele frequency: 8.400255367763179e-6
allele num: 119044
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.603C>G
  hgvsp: ENSP00000455026.1:p.Asp201Glu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.603C>G
  hgvsp: ENSP00000007264.2:p.Asp201Glu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*326C>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.216C>G
  hgvsp: ENSP00000456692.1:p.Asp72Glu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.225C>G
  hgvsp: ENSP00000454616.1:p.Asp75Glu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.216C>G
  hgvsp: ENSP00000455862.1:p.Asp72Glu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*104C>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*187C>G
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51167
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp201Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

16-836289-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836289
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836289
    reference: chr 16
allele count: 2
allele frequency: 1.682114080976972e-5
allele num: 118898
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.600G>C
  hgvsp: ENSP00000455026.1:p.Glu200Asp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.600G>C
  hgvsp: ENSP00000007264.2:p.Glu200Asp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.222G>C
  hgvsp: ENSP00000454616.1:p.Glu74Asp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.213G>C
  hgvsp: ENSP00000456692.1:p.Glu71Asp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*101G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.213G>C
  hgvsp: ENSP00000455862.1:p.Glu71Asp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*323G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*184G>C
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu200Asp
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-836293-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836293
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836293
    reference: chr 16
allele count: 2
allele frequency: 1.68321831341525e-5
allele num: 118820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.596G>T
  hgvsp: ENSP00000007264.2:p.Arg199Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.209G>T
  hgvsp: ENSP00000456692.1:p.Arg70Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.209G>T
  hgvsp: ENSP00000455862.1:p.Arg70Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*180G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.596G>T
  hgvsp: ENSP00000455026.1:p.Arg199Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*97G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*319G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.218G>T
  hgvsp: ENSP00000454616.1:p.Arg73Leu
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg199Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

16-836293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836293
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836293
    reference: chr 16
allele count: 8
allele frequency: 6.732873253661e-5
allele num: 118820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.596G>A
  hgvsp: ENSP00000007264.2:p.Arg199Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*180G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.209G>A
  hgvsp: ENSP00000456692.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.218G>A
  hgvsp: ENSP00000454616.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*97G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.209G>A
  hgvsp: ENSP00000455862.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*319G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.596G>A
  hgvsp: ENSP00000455026.1:p.Arg199Gln
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg199Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS

16-836294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836294
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836294
    reference: chr 16
allele count: 8
allele frequency: 6.732080044431729e-5
allele num: 118834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*179C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.208C>T
  hgvsp: ENSP00000455862.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.217C>T
  hgvsp: ENSP00000454616.1:p.Arg73Trp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.595C>T
  hgvsp: ENSP00000455026.1:p.Arg199Trp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.208C>T
  hgvsp: ENSP00000456692.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*318C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.595C>T
  hgvsp: ENSP00000007264.2:p.Arg199Trp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14745
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg199Trp
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: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

16-836298-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836298
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836298
    reference: chr 16
allele count: 1
allele frequency: 8.418075291265404e-6
allele num: 118792
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.591G>C
  hgvsp: ENST00000561734.1:c.591G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.204G>C
  hgvsp: ENST00000565377.1:c.204G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*175G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.204G>C
  hgvsp: ENST00000567114.1:c.204G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.213G>C
  hgvsp: ENST00000569601.1:c.213G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*314G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.591G>C
  hgvsp: ENST00000007264.2:c.591G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*92G>C
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser197Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

16-836298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836298
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836298
    reference: chr 16
allele count: 5
allele frequency: 4.209037645632703e-5
allele num: 118792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*92G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.204G>A
  hgvsp: ENST00000567114.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*175G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.591G>A
  hgvsp: ENST00000561734.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.591G>A
  hgvsp: ENST00000007264.2:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.213G>A
  hgvsp: ENST00000569601.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*314G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.204G>A
  hgvsp: ENST00000565377.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser197Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

16-836299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836299
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836299
    reference: chr 16
allele count: 5
allele frequency: 4.208754208754209e-5
allele num: 118800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*313C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*91C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.203C>T
  hgvsp: ENSP00000456692.1:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.590C>T
  hgvsp: ENSP00000455026.1:p.Ser197Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.590C>T
  hgvsp: ENSP00000007264.2:p.Ser197Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*174C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.212C>T
  hgvsp: ENSP00000454616.1:p.Ser71Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.203C>T
  hgvsp: ENSP00000455862.1:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50974
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser197Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-836306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836306
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836306
    reference: chr 16
allele count: 1
allele frequency: 8.433836552247617e-6
allele num: 118570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.205G>A
  hgvsp: ENSP00000454616.1:p.Glu69Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.583G>A
  hgvsp: ENSP00000455026.1:p.Glu195Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.196G>A
  hgvsp: ENSP00000456692.1:p.Glu66Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.583G>A
  hgvsp: ENSP00000007264.2:p.Glu195Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.196G>A
  hgvsp: ENSP00000455862.1:p.Glu66Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*84G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*167G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*306G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu195Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-836308-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836308
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836308
    reference: chr 16
allele count: 1
allele frequency: 8.43668269636379e-6
allele num: 118530
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.581G>C
  hgvsp: ENSP00000455026.1:p.Gly194Ala
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*165G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.194G>C
  hgvsp: ENSP00000456692.1:p.Gly65Ala
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.194G>C
  hgvsp: ENSP00000455862.1:p.Gly65Ala
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*304G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.581G>C
  hgvsp: ENSP00000007264.2:p.Gly194Ala
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*82G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.203G>C
  hgvsp: ENSP00000454616.1:p.Gly68Ala
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly194Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-836310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836310
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836310
    reference: chr 16
allele count: 4
allele frequency: 3.377750755771732e-5
allele num: 118422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.192C>T
  hgvsp: ENST00000567114.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.201C>T
  hgvsp: ENST00000569601.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.192C>T
  hgvsp: ENST00000565377.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*302C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*80C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.579C>T
  hgvsp: ENST00000561734.1:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.579C>T
  hgvsp: ENST00000007264.2:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr193Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

16-836313-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836313
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836313
    reference: chr 16
allele count: 1
allele frequency: 8.453514125822104e-6
allele num: 118294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*160C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.576C>A
  hgvsp: ENST00000561734.1:c.576C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.189C>A
  hgvsp: ENST00000565377.1:c.189C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.189C>A
  hgvsp: ENST00000567114.1:c.189C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*77C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*299C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.576C>A
  hgvsp: ENST00000007264.2:c.576C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.198C>A
  hgvsp: ENST00000569601.1:c.198C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 38954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14666
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr192Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-836321-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836321
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836321
    reference: chr 16
allele count: 1
allele frequency: 8.484498820654664e-6
allele num: 117862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.181G>T
  hgvsp: ENSP00000455862.1:p.Asp61Tyr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*291G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.568G>T
  hgvsp: ENSP00000007264.2:p.Asp190Tyr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*152G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.181G>T
  hgvsp: ENSP00000456692.1:p.Asp61Tyr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.568G>T
  hgvsp: ENSP00000455026.1:p.Asp190Tyr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*69G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.190G>T
  hgvsp: ENSP00000454616.1:p.Asp64Tyr
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp190Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

16-836321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836321
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836321
    reference: chr 16
allele count: 86
allele frequency: 7.296668985763011e-4
allele num: 117862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*291G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.568G>A
  hgvsp: ENSP00000007264.2:p.Asp190Asn
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.181G>A
  hgvsp: ENSP00000456692.1:p.Asp61Asn
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.568G>A
  hgvsp: ENSP00000455026.1:p.Asp190Asn
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.190G>A
  hgvsp: ENSP00000454616.1:p.Asp64Asn
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.181G>A
  hgvsp: ENSP00000455862.1:p.Asp61Asn
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*152G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*69G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38565
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp190Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

16-836322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836322
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836322
    reference: chr 16
allele count: 5
allele frequency: 4.244265996638541e-5
allele num: 117806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.567C>T
  hgvsp: ENST00000007264.2:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.180C>T
  hgvsp: ENST00000565377.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.189C>T
  hgvsp: ENST00000569601.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*151C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*290C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.180C>T
  hgvsp: ENST00000567114.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.567C>T
  hgvsp: ENST00000561734.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*68C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly189Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

14-32031337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031337
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031337
    reference: chr 14
allele count: 1
allele frequency: 8.879575201122378e-6
allele num: 112618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.176C>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.172C>T
  hgvsp: ENSP00000447618.1:p.Pro58Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.172C>T
  hgvsp: ENSP00000449918.1:p.Pro58Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.172C>T
  hgvsp: ENSP00000281081.7:p.Pro58Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.16C>T
  hgvsp: ENSP00000447234.1:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.172C>T
  hgvsp: ENSP00000447316.1:p.Pro58Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.97C>T
  hgvsp: ENSP00000446511.1:p.Pro33Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.136C>T
  hgvsp: ENSP00000447658.1:p.Pro46Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.121C>T
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro58Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/14-32031338-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031338
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031337
    reference: chr 14
allele count: 3
allele frequency: 2.655619290418526e-5
allele num: 112968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.176delA
  hgvsp: ENSP00000447316.1:p.Lys59SerfsTer5
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.101delA
  hgvsp: ENSP00000446511.1:p.Lys34SerfsTer5
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.20delA
  hgvsp: ENSP00000447234.1:p.Lys7SerfsTer5
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.176delA
  hgvsp: ENSP00000447618.1:p.Lys59SerfsTer5
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.125delA
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.176delA
  hgvsp: ENSP00000281081.7:p.Lys59SerfsTer5
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.180delA
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.176delA
  hgvsp: ENSP00000449918.1:p.Lys59SerfsTer5
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.140delA
  hgvsp: ENSP00000447658.1:p.Lys47SerfsTer5
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39602
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys59SerfsTer5
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: CA
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

14-32031341-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031341
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031341
    reference: chr 14
allele count: 17
allele frequency: 1.492013340354573e-4
allele num: 113940
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.176A>G
  hgvsp: ENSP00000281081.7:p.Lys59Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.176A>G
  hgvsp: ENSP00000447618.1:p.Lys59Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.20A>G
  hgvsp: ENSP00000447234.1:p.Lys7Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.140A>G
  hgvsp: ENSP00000447658.1:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.101A>G
  hgvsp: ENSP00000446511.1:p.Lys34Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.176A>G
  hgvsp: ENSP00000447316.1:p.Lys59Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.176A>G
  hgvsp: ENSP00000449918.1:p.Lys59Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.180A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.125A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39784
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10130
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys59Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-32031350-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031350
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031350
    reference: chr 14
allele count: 1
allele frequency: 8.584133088399403e-6
allele num: 116494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.189C>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.185C>G
  hgvsp: ENSP00000447316.1:p.Pro62Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.134C>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.149C>G
  hgvsp: ENSP00000447658.1:p.Pro50Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.185C>G
  hgvsp: ENSP00000281081.7:p.Pro62Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.110C>G
  hgvsp: ENSP00000446511.1:p.Pro37Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.185C>G
  hgvsp: ENSP00000449918.1:p.Pro62Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.185C>G
  hgvsp: ENSP00000447618.1:p.Pro62Arg
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.29C>G
  hgvsp: ENSP00000447234.1:p.Pro10Arg
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro62Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

14-32031353-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031353
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031353
    reference: chr 14
allele count: 2
allele frequency: 1.705320600272851e-5
allele num: 117280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.152T>A
  hgvsp: ENSP00000447658.1:p.Ile51Lys
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.188T>A
  hgvsp: ENSP00000449918.1:p.Ile63Lys
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.188T>A
  hgvsp: ENSP00000447316.1:p.Ile63Lys
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.188T>A
  hgvsp: ENSP00000281081.7:p.Ile63Lys
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.113T>A
  hgvsp: ENSP00000446511.1:p.Ile38Lys
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.32T>A
  hgvsp: ENSP00000447234.1:p.Ile11Lys
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.192T>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.188T>A
  hgvsp: ENSP00000447618.1:p.Ile63Lys
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.137T>A
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile63Lys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

14-32031363-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031363
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031363
    reference: chr 14
allele count: 5
allele frequency: 4.211519347719883e-5
allele num: 118722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.42T>A
  hgvsp: ENST00000551314.1:c.42T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.198T>A
  hgvsp: ENST00000550649.1:c.198T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.123T>A
  hgvsp: ENST00000550005.1:c.123T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.162T>A
  hgvsp: ENST00000549838.1:c.162T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.198T>A
  hgvsp: ENST00000552489.1:c.198T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.198T>A
  hgvsp: ENST00000547839.1:c.198T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.147T>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.198T>A
  hgvsp: ENST00000281081.7:c.198T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.202T>A
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val66Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

14-32031364-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031364
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031364
    reference: chr 14
allele count: 1
allele frequency: 8.416658250008417e-6
allele num: 118812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.199A>G
  hgvsp: ENSP00000447316.1:p.Lys67Glu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.199A>G
  hgvsp: ENSP00000449918.1:p.Lys67Glu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.199A>G
  hgvsp: ENSP00000281081.7:p.Lys67Glu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.43A>G
  hgvsp: ENSP00000447234.1:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.124A>G
  hgvsp: ENSP00000446511.1:p.Lys42Glu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.163A>G
  hgvsp: ENSP00000447658.1:p.Lys55Glu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.199A>G
  hgvsp: ENSP00000447618.1:p.Lys67Glu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.148A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.203A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys67Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

14-32031366-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031366
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031367
    reference: chr 14
allele count: 1
allele frequency: 8.402655239055541e-6
allele num: 119010
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.126_127insG
  hgvsp: ENSP00000446511.1:p.Gln43AlafsTer?
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.165_166insG
  hgvsp: ENSP00000447658.1:p.Gln56AlafsTer82
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.205_206insG
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.150_151insG
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.45_46insG
  hgvsp: ENSP00000447234.1:p.Gln16AlafsTer82
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.201_202insG
  hgvsp: ENSP00000447618.1:p.Gln68AlafsTer47
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.201_202insG
  hgvsp: ENSP00000449918.1:p.Gln68AlafsTer82
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.201_202insG
  hgvsp: ENSP00000281081.7:p.Gln68AlafsTer82
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.201_202insG
  hgvsp: ENSP00000447316.1:p.Gln68AlafsTer27
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41394
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln68AlafsTer82
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

14-32031366-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031366
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031366
    reference: chr 14
allele count: 2
allele frequency: 1.680531047811108e-5
allele num: 119010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.205A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.201A>G
  hgvsp: ENST00000552489.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.45A>G
  hgvsp: ENST00000551314.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.201A>G
  hgvsp: ENST00000547839.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.165A>G
  hgvsp: ENST00000549838.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.150A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.126A>G
  hgvsp: ENST00000550005.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.201A>G
  hgvsp: ENST00000281081.7:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.201A>G
  hgvsp: ENST00000550649.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys67Lys
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

16-836329-A-ACGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836329
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836332
    reference: chr 16
allele count: 1
allele frequency: 8.511072905850511e-6
allele num: 117494
alternate allele: ACGG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.557_559dupCCG
  hgvsp: ENSP00000007264.2:p.Pro186_Val187insAla
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.179_181dupCCG
  hgvsp: ENSP00000454616.1:p.Pro60_Val61insAla
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.*280_*282dupCCG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.557_559dupCCG
  hgvsp: ENSP00000455026.1:p.Pro186_Val187insAla
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.170_172dupCCG
  hgvsp: ENSP00000456692.1:p.Pro57_Val58insAla
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.*58_*60dupCCG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.170_172dupCCG
  hgvsp: ENSP00000455862.1:p.Pro57_Val58insAla
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*141_*143dupCCG
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro186_Val187insAla
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

14-32031382-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031382
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031382
    reference: chr 14
allele count: 8
allele frequency: 6.687621213134488e-5
allele num: 119624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.217G>T
  hgvsp: ENSP00000447316.1:p.Ala73Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.166G>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.221G>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.217G>T
  hgvsp: ENSP00000281081.7:p.Ala73Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.217G>T
  hgvsp: ENSP00000449918.1:p.Ala73Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.142G>T
  hgvsp: ENSP00000446511.1:p.Ala48Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.181G>T
  hgvsp: ENSP00000447658.1:p.Ala61Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.217G>T
  hgvsp: ENSP00000447618.1:p.Ala73Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.61G>T
  hgvsp: ENSP00000447234.1:p.Ala21Ser
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11976
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala73Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/14-32031383-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031383
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031383
    reference: chr 14
allele count: 4
allele frequency: 3.343083994985374e-5
allele num: 119650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.218C>A
  hgvsp: ENSP00000449918.1:p.Ala73Asp
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.218C>A
  hgvsp: ENSP00000447316.1:p.Ala73Asp
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.218C>A
  hgvsp: ENSP00000281081.7:p.Ala73Asp
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.222C>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.167C>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.218C>A
  hgvsp: ENSP00000447618.1:p.Ala73Asp
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.143C>A
  hgvsp: ENSP00000446511.1:p.Ala48Asp
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.182C>A
  hgvsp: ENSP00000447658.1:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.62C>A
  hgvsp: ENSP00000447234.1:p.Ala21Asp
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala73Asp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-32031384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031384
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031384
    reference: chr 14
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.219T>C
  hgvsp: ENST00000547839.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.63T>C
  hgvsp: ENST00000551314.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.219T>C
  hgvsp: ENST00000552489.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.223T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.219T>C
  hgvsp: ENST00000550649.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.183T>C
  hgvsp: ENST00000549838.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000446511
  ensembl transcript: ENST00000550005
  gene symbol: NUBPL
  hgvsc: ENST00000550005.1:c.144T>C
  hgvsp: ENST00000550005.1:c.144T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.219T>C
  hgvsp: ENST00000281081.7:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.168T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala73Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-32031411-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031411
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031411
    reference: chr 14
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.246T>C
  hgvsp: ENST00000281081.7:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.90T>C
  hgvsp: ENST00000551314.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.246T>C
  hgvsp: ENST00000550649.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.210T>C
  hgvsp: ENST00000549838.1:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.246T>C
  hgvsp: ENST00000547839.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.246T>C
  hgvsp: ENST00000552489.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.195T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.250T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser82Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-32031412-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031412
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031412
    reference: chr 14
allele count: 1
allele frequency: 8.350312301680083e-6
allele num: 119756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.247A>G
  hgvsp: ENSP00000449918.1:p.Thr83Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.247A>G
  hgvsp: ENSP00000447618.1:p.Thr83Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.211A>G
  hgvsp: ENSP00000447658.1:p.Thr71Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.91A>G
  hgvsp: ENSP00000447234.1:p.Thr31Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.251A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.196A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.247A>G
  hgvsp: ENSP00000447316.1:p.Thr83Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.247A>G
  hgvsp: ENSP00000281081.7:p.Thr83Ala
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr83Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

14-32031415-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031415
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031415
    reference: chr 14
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.250A>G
  hgvsp: ENSP00000281081.7:p.Thr84Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.250A>G
  hgvsp: ENSP00000447316.1:p.Thr84Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.94A>G
  hgvsp: ENSP00000447234.1:p.Thr32Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.199A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.254A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.214A>G
  hgvsp: ENSP00000447658.1:p.Thr72Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.250A>G
  hgvsp: ENSP00000449918.1:p.Thr84Ala
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.250A>G
  hgvsp: ENSP00000447618.1:p.Thr84Ala
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr84Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

14-32031416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031416
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031416
    reference: chr 14
allele count: 2
allele frequency: 1.671262638923707e-5
allele num: 119670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.251C>T
  hgvsp: ENSP00000447316.1:p.Thr84Ile
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.255C>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.251C>T
  hgvsp: ENSP00000449918.1:p.Thr84Ile
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.95C>T
  hgvsp: ENSP00000447234.1:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.251C>T
  hgvsp: ENSP00000281081.7:p.Thr84Ile
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.251C>T
  hgvsp: ENSP00000447618.1:p.Thr84Ile
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.215C>T
  hgvsp: ENSP00000447658.1:p.Thr72Ile
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.200C>T
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr84Ile
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum

14-32031425-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031425
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031425
    reference: chr 14
allele count: 1
allele frequency: 8.370722560771445e-6
allele num: 119464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.220+4T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.205+4T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.256+4T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.256+4T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.260+4T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.256+4T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.100+4T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.256+4T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
hgvs: c.256+4T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-32031426-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031426
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031426
    reference: chr 14
allele count: 1
allele frequency: 8.371002846140968e-6
allele num: 119460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.256+5T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.100+5T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.260+5T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.220+5T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.256+5T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.205+5T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.256+5T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.256+5T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
hgvs: c.256+5T>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-32031427-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031427
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031427
    reference: chr 14
allele count: 9
allele frequency: 7.534154835253148e-5
allele num: 119456
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.256+6A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.260+6A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.256+6A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.220+6A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.100+6A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.256+6A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.205+6A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.256+6A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
hgvs: c.256+6A>G
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

14-32031435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031435
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031435
    reference: chr 14
allele count: 173
allele frequency: 1.450077113927446e-3
allele num: 119304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.100+14T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.256+14T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.256+14T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.205+14T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.260+14T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.256+14T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.256+14T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.220+14T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39008
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD

14-32031452-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031452
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031452
    reference: chr 14
allele count: 1
allele frequency: 8.400255367763179e-6
allele num: 119044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.205+31T>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.256+31T>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.256+31T>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.260+31T>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.256+31T>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.100+31T>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.256+31T>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.220+31T>A
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-32031457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031457
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031457
    reference: chr 14
allele count: 1
allele frequency: 8.406469619018796e-6
allele num: 118956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.260+36A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.256+36A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.256+36A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.220+36A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.256+36A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.100+36A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.205+36A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.256+36A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

14-32031462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031462
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031462
    reference: chr 14
allele count: 1
allele frequency: 8.413542437908056e-6
allele num: 118856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.100+41T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.256+41T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.205+41T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.256+41T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.256+41T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.256+41T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.220+41T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.260+41T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-32031467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031467
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031467
    reference: chr 14
allele count: 9
allele frequency: 7.580607122401536e-5
allele num: 118724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.256+46A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.220+46A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.256+46A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.100+46A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.256+46A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.260+46A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.256+46A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.205+46A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33212
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

14-32031468-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32031468
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32031468
    reference: chr 14
allele count: 5
allele frequency: 4.221332928085372e-5
allele num: 118446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.256+47C>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.100+47C>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.256+47C>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.205+47C>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.256+47C>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.220+47C>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.260+47C>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.256+47C>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-32034171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034171
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034171
    reference: chr 14
allele count: 1
allele frequency: 9.013556388808768e-6
allele num: 110944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.257-49T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.101-49T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*39-49T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.257-49T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.206-49T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.257-49T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.261-49T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.221-49T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

14-32034174-TAGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034174
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034170
    reference: chr 14
allele count: 1
allele frequency: 9.003817618670317e-6
allele num: 111064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*39-45_*39-42delAGAA
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.261-45_261-42delAGAA
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.221-45_221-42delAGAA
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.206-45_206-42delAGAA
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.101-45_101-42delAGAA
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.257-45_257-42delAGAA
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.257-45_257-42delAGAA
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.257-45_257-42delAGAA
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 4.75e1
  variant carriers: 0
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: TAGAA
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-32034190-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034190
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034190
    reference: chr 14
allele count: 2
allele frequency: 1.763233064146419e-5
allele num: 113428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.257-30A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.101-30A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.206-30A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.257-30A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.261-30A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.257-30A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.221-30A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*39-30A>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

14-32034196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034196
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034196
    reference: chr 14
allele count: 5
allele frequency: 4.34487912546273e-5
allele num: 115078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*39-24A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.257-24A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.101-24A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.221-24A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.257-24A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.206-24A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.257-24A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.261-24A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8803
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

14-32034197-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034197
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034197
    reference: chr 14
allele count: 1
allele frequency: 8.670921198668147e-6
allele num: 115328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*39-23A>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.221-23A>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.257-23A>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.257-23A>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.257-23A>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.206-23A>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.261-23A>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.101-23A>T
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-32034201-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034201
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034200
    reference: chr 14
allele count: 2
allele frequency: 1.722356183258698e-5
allele num: 116120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.221-12delT
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*39-12delT
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.206-12delT
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.261-12delT
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.257-12delT
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.257-12delT
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.257-12delT
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.101-12delT
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: CT
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-32034202-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034202
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034202
    reference: chr 14
allele count: 1
allele frequency: 8.602594542514021e-6
allele num: 116244
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.257-18T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.206-18T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.221-18T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.261-18T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.101-18T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*39-18T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.257-18T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.257-18T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

14-32034203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034203
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034203
    reference: chr 14
allele count: 1
allele frequency: 8.582806921175501e-6
allele num: 116512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.261-17T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.101-17T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.206-17T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.221-17T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.257-17T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*39-17T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.257-17T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.257-17T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-32034244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034244
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034244
    reference: chr 14
allele count: 4
allele frequency: 3.393684353418289e-5
allele num: 117866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.285C>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.125C>T
  hgvsp: ENSP00000447234.1:p.Ala42Val
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*63C>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.245C>T
  hgvsp: ENSP00000447658.1:p.Ala82Val
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.281C>T
  hgvsp: ENSP00000449918.1:p.Ala94Val
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.281C>T
  hgvsp: ENSP00000281081.7:p.Ala94Val
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.281C>T
  hgvsp: ENSP00000447618.1:p.Ala94Val
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.230C>T
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala94Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

14-32034245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034245
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034245
    reference: chr 14
allele count: 2
allele frequency: 1.69741822687692e-5
allele num: 117826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.282G>A
  hgvsp: ENST00000550649.1:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.231G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.126G>A
  hgvsp: ENST00000551314.1:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.246G>A
  hgvsp: ENST00000549838.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.282G>A
  hgvsp: ENST00000547839.1:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.282G>A
  hgvsp: ENST00000281081.7:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.286G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*64G>A
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala94Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

14-32034247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034247
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034247
    reference: chr 14
allele count: 1
allele frequency: 8.491847826086957e-6
allele num: 117760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.233A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*66A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.284A>G
  hgvsp: ENSP00000449918.1:p.Asn95Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.128A>G
  hgvsp: ENSP00000447234.1:p.Asn43Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.288A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.284A>G
  hgvsp: ENSP00000281081.7:p.Asn95Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.284A>G
  hgvsp: ENSP00000447618.1:p.Asn95Ser
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.248A>G
  hgvsp: ENSP00000447658.1:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn95Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

14-32034248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034248
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034248
    reference: chr 14
allele count: 37
allele frequency: 3.142143791293714e-4
allele num: 117754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.285C>T
  hgvsp: ENST00000547839.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.129C>T
  hgvsp: ENST00000551314.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.234C>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.289C>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.285C>T
  hgvsp: ENST00000550649.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.249C>T
  hgvsp: ENST00000549838.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.285C>T
  hgvsp: ENST00000281081.7:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14571
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 33738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6160
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn95Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

14-32034253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034253
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034253
    reference: chr 14
allele count: 7
allele frequency: 5.964248589881226e-5
allele num: 117366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.239C>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.254C>T
  hgvsp: ENSP00000447658.1:p.Ser85Leu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.290C>T
  hgvsp: ENSP00000447618.1:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.290C>T
  hgvsp: ENSP00000281081.7:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.290C>T
  hgvsp: ENSP00000449918.1:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.134C>T
  hgvsp: ENSP00000447234.1:p.Ser45Leu
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.294C>T
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*72C>T
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser97Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ

14-32034254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034254
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034254
    reference: chr 14
allele count: 5
allele frequency: 4.262574595055413e-5
allele num: 117300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135G>A
  hgvsp: ENST00000551314.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291G>A
  hgvsp: ENST00000550649.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255G>A
  hgvsp: ENST00000549838.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291G>A
  hgvsp: ENST00000547839.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291G>A
  hgvsp: ENST00000281081.7:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
hgvs: c.291G>A
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-32034268-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034268
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034268
    reference: chr 14
allele count: 3
allele frequency: 2.641403113333803e-5
allele num: 113576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+14A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+14A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+14A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+14A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+14A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+14A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+14A>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+14A>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

14-32034269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034269
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034269
    reference: chr 14
allele count: 5
allele frequency: 4.416336913510458e-5
allele num: 113216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+15A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+15A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+15A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+15A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+15A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+15A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+15A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+15A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16755
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13821
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

14-32034280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034280
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034280
    reference: chr 14
allele count: 2
allele frequency: 1.885156279455567e-5
allele num: 106092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+26A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+26A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+26A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+26A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+26A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+26A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+26A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+26A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

14-32034287-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034287
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034287
    reference: chr 14
allele count: 1
allele frequency: 9.619454384547309e-6
allele num: 103956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+33T>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+33T>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+33T>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+33T>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+33T>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+33T>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+33T>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+33T>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

14-32034291-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034291
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034291
    reference: chr 14
allele count: 1
allele frequency: 9.71420800062171e-6
allele num: 102942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+37A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+37A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+37A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+37A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+37A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+37A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+37A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+37A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

14-32034292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32034292
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32034292
    reference: chr 14
allele count: 5
allele frequency: 4.874244492103724e-5
allele num: 102580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+38T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+38T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+38T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+38T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+38T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+38T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+38T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+38T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-32047210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32047210
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32047210
    reference: chr 14
allele count: 21
allele frequency: 1.951672862453532e-3
allele num: 10760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+12956G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+12956G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+12956G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+12956G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+12956G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+12956G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+12956G>A
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+12956G>A
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

14-32047217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32047217
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32047217
    reference: chr 14
allele count: 4183
allele frequency: 3.886101820884429e-1
allele num: 10764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+12963T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+12963T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+12963T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+12963T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+12963T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+12963T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+12963T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+12963T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 302
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.5e0
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 264
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 1333
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.5e0
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 864
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-32047263-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32047263
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32047263
    reference: chr 14
allele count: 1
allele frequency: 9.291953168556031e-5
allele num: 10762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+13009A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+13009A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+13009A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+13009A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+13009A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+13009A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+13009A>G
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+13009A>G
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-32047280-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32047280
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 32047280
    reference: chr 14
allele count: 6
allele frequency: 5.577244841048522e-4
allele num: 10758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000550355
  gene symbol: NUBPL
  hgvsc: ENST00000550355.1:n.240+13026T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447234
  ensembl transcript: ENST00000551314
  gene symbol: NUBPL
  hgvsc: ENST00000551314.1:c.135+13026T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl transcript: ENST00000548937
  gene symbol: NUBPL
  hgvsc: ENST00000548937.1:n.295+13026T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447658
  ensembl transcript: ENST00000549838
  gene symbol: NUBPL
  hgvsc: ENST00000549838.1:c.255+13026T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447316
  ensembl transcript: ENST00000552489
  gene symbol: NUBPL
  hgvsc: ENST00000552489.1:c.*73+13026T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000281081
  ensembl transcript: ENST00000281081
  gene symbol: NUBPL
  hgvsc: ENST00000281081.7:c.291+13026T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000447618
  ensembl transcript: ENST00000550649
  gene symbol: NUBPL
  hgvsc: ENST00000550649.1:c.291+13026T>C
  variant of: http://identifiers.org/hgnc/20278
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151413
  ensembl protein: ENSP00000449918
  ensembl transcript: ENST00000547839
  gene symbol: NUBPL
  hgvsc: ENST00000547839.1:c.291+13026T>C
  variant of: http://identifiers.org/hgnc/20278
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65270
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.489995346672871e-4
allele num: 8596
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.108e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.451783e6

QD
type: SiteQuality
SIO_000300: 1.062e1

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532332209623046e-5
allele num: 65260
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 8.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.74e0

VQSLOD
type: SiteQuality
SIO_000300: 9.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

DP
type: SiteQuality
SIO_000300: 1.451061e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51584
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.687271834831426e-4
allele num: 65194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.343e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.450603e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.75e1
variant carriers: 3

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65030
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.446675e6

FS
type: SiteQuality
SIO_000300: 1.112e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.992e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

GenotypeQuality
all individuals: 411
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64904
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.159e1

DP
type: SiteQuality
SIO_000300: 1.444593e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.229e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.05e0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

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

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5106
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.163138270007087e-5
allele num: 64902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.936406995230525e-5
allele num: 10064
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.292e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.444534e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540689612670631e-5
allele num: 64906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.48e-2

FS
type: SiteQuality
SIO_000300: 8.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.44403e6

MQ
type: SiteQuality
SIO_000300: 5.865e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.442391e6

ReadPosRankSum
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SIO_000300: 1.22e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.088230752601834e-5
allele num: 64762
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
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FS
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ClippingRankSum
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QD
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VQSLOD
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SIO_000300: 1.14e0

InbreedingCoeff
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SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.442051e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.176461505203669e-5
allele num: 64762
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

South Asian
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allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.998800719568259e-4
allele num: 10006
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
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ReadPosRankSum
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SIO_000300: 2.49e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
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SIO_000300: 1.54e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.442051e6

FS
type: SiteQuality
SIO_000300: 1.118e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10012
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.262975885386112e-5
allele num: 64774
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8568
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European (Finnish)
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allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.441278e6

FS
type: SiteQuality
SIO_000300: 2.516e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8562
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South Asian
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allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64730
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

DP
type: SiteQuality
SIO_000300: 1.44005e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.52e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.33590282644242e-4
allele num: 8562
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 64730
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South Asian
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allele num: 16490
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
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MQ
type: SiteQuality
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QD
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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MQRankSum
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Other
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Latino
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BaseQRankSum
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QD
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MQ
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DP
type: SiteQuality
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16474
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Latino
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African
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.649144557401438e-5
allele num: 64528
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Latino
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allele num: 11506
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.43538e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
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SIO_000300: 1.99e0

FS
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SIO_000300: 2.643e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.381e0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551782998665467e-5
allele num: 64442
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 1.433397e6

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 4.869e0

VQSLOD
type: SiteQuality
SIO_000300: -2.691e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.557777985481509e-5
allele num: 64194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 1.433103e6

QD
type: SiteQuality
SIO_000300: 1.282e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.869333582577811e-4
allele num: 64194
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.651162790697674e-3
allele num: 860
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

European (Finnish)
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allele count: 69
allele frequency: 1.056985294117647e-2
allele num: 6528
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.282e1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

DP
type: SiteQuality
SIO_000300: 1.433103e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.046922608165753e-4
allele num: 16410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64174
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

DP
type: SiteQuality
SIO_000300: 1.427266e6

FS
type: SiteQuality
SIO_000300: 5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.931e0

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61490
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.944543828264758e-5
allele num: 11180
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 852
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MQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.864759680871765e-5
allele num: 61668
num of homozygotes: 0

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

Other
type: Population
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allele num: 854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
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BaseQRankSum
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SIO_000300: -1.015e0

ClippingRankSum
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SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 1.356992e6

InbreedingCoeff
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SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.114e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 17
allele frequency: 1.08005082592122e-3
allele num: 15740
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8098
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62236
num of homozygotes: 0

Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 1.367589e6

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.054407423028258e-4
allele num: 9484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

DP
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SIO_000300: 1.397603e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516622179082747e-5
allele num: 65936
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 1.431094e6

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

FS
type: SiteQuality
SIO_000300: 1.935e0

DP
type: SiteQuality
SIO_000300: 1.432921e6

QD
type: SiteQuality
SIO_000300: 1.255e1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66008
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.031991744066047e-4
allele num: 9690
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.411e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.902e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.33e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.113e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.318e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 1.431327e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736714136853074e-4
allele num: 11516
num of homozygotes: 1

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

VQSLOD
type: SiteQuality
SIO_000300: -1.073e0

QD
type: SiteQuality
SIO_000300: 1.848e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.77e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.319e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 1.430823e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.283e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1922
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519433555170632e-5
allele num: 65814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.035625517812759e-4
allele num: 9656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65814
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.214e1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1923
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.215509906405737e-4
allele num: 65816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.332e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1232
bin: 9.75e1
variant carriers: 172

GenotypeQuality
all individuals: 5763
bin: 6.75e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 1.738223535546671e-4
allele num: 11506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.8310546875e-4
allele num: 16384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.272038776128446e-3
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 153
allele frequency: 2.32820013390955e-3
allele num: 65716
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.41251e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

FS
type: SiteQuality
SIO_000300: 6.42e-1

QD
type: SiteQuality
SIO_000300: 1.454e1

GenotypeQuality
all individuals: 38710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 426
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1918
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65554
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.367988e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.36e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

QD
type: SiteQuality
SIO_000300: 1.568e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 1.352882e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

GenotypeQuality
all individuals: 411
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.170411985018727e-4
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.344968e6

QD
type: SiteQuality
SIO_000300: 1.328e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.701e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2964
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
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variant carriers: 0

GenotypeQuality
all individuals: 3507
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30381
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.055594651653765e-3
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.453e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.339263e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

GenotypeQuality
all individuals: 2219
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4376
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.5e0
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GenotypeQuality
all individuals: 5043
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variant carriers: 0

GenotypeQuality
all individuals: 1956
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variant carriers: 0

GenotypeQuality
all individuals: 339
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variant carriers: 0

GenotypeQuality
all individuals: 407
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GenotypeQuality
all individuals: 1627
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variant carriers: 0

GenotypeQuality
all individuals: 3692
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variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26925
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65202
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.076165866863542e-4
allele num: 16254
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.438e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.338e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
SIO_000300: 1.341018e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
all individuals: 420
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 891
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variant carriers: 0

GenotypeQuality
all individuals: 2696
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5536
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8802
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1998
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.668446342765617e-5
allele num: 59936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

DP
type: SiteQuality
SIO_000300: 1.700495e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.397e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15858
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.666388935177471e-5
allele num: 60010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

DP
type: SiteQuality
SIO_000300: 1.714192e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: -1.693e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.589e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.023e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 8800
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.240540875821858e-4
allele num: 16122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.659e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

DP
type: SiteQuality
SIO_000300: 1.80181e6

QD
type: SiteQuality
SIO_000300: 1.593e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
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variant carriers: 0

GenotypeQuality
all individuals: 32935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 1778
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variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
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GenotypeQuality
all individuals: 6083
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GenotypeQuality
all individuals: 1939
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.00332938502417e-5
allele num: 62474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

FS
type: SiteQuality
SIO_000300: 3.677e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.918e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.992e0

DP
type: SiteQuality
SIO_000300: 1.824939e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596016343207354e-5
allele num: 62656
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.324e-1

QD
type: SiteQuality
SIO_000300: 7.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.827871e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1380
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581727879535605e-5
allele num: 63222
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.12294881214793e-5
allele num: 16332
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.839577e6

QD
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 871
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variant carriers: 0

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

GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

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: 6508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119202056051891e-5
allele num: 16342
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.842135e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

QD
type: SiteQuality
SIO_000300: 9.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.161e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.165999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
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variant carriers: 0

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

GenotypeQuality
all individuals: 871
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GenotypeQuality
all individuals: 2477
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575299306868305e-5
allele num: 63480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.843057e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

FS
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

GenotypeQuality
all individuals: 1942
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 868
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 31
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8797
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 33996
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.824817518248175e-4
allele num: 16440
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551060925673161e-5
allele num: 64472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 9.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 1.851152e6

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

FS
type: SiteQuality
SIO_000300: 2.492e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

GenotypeQuality
all individuals: 1943
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 98
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2345
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GenotypeQuality
all individuals: 8796
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 1
allele frequency: 1.063377286261165e-4
allele num: 9404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551734839550618e-5
allele num: 64444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 8.178000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -7.944e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.85037e6

QD
type: SiteQuality
SIO_000300: 1.12e1

MQ
type: SiteQuality
SIO_000300: 5.84e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552891483943102e-5
allele num: 64396
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.017e0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.847601e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1378
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GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.050640634533252e-4
allele num: 6556
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.087909411907951e-4
allele num: 16426
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.063829787234043e-4
allele num: 9400
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.747030048916841e-3
allele num: 8586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.087091564169462e-4
allele num: 64392
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.849171e6

GenotypeQuality
all individuals: 254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
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GenotypeQuality
all individuals: 1936
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GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 1770
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GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 1378
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GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.795447458684128e-5
allele num: 64140
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.218620521569583e-4
allele num: 16412
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
type: SiteQuality
SIO_000300: 1.839727e6

FS
type: SiteQuality
SIO_000300: 4.4e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
all individuals: 6110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.481288076588338e-4
allele num: 11490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64094
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

QD
type: SiteQuality
SIO_000300: 1.092e1

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 1.8378e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61762
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.864512119328776e-4
allele num: 16090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.777797e6

FS
type: SiteQuality
SIO_000300: 3.305e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1377
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.498781478472787e-5
allele num: 61550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.580278128950695e-4
allele num: 6328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

DP
type: SiteQuality
SIO_000300: 1.771538e6

QD
type: SiteQuality
SIO_000300: 1.587e1

FS
type: SiteQuality
SIO_000300: 4.456e0

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18934
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variant carriers: 0

GenotypeQuality
all individuals: 4919
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57202
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.335470085470086e-4
allele num: 7488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
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: 0
allele frequency: 0.0e0
allele num: 15436
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.660926e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 1.735e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 803
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7276
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.296680497925311e-4
allele num: 7712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15184
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

DP
type: SiteQuality
SIO_000300: 1.617407e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.475e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7118
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.803556613642102e-5
allele num: 55446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

QD
type: SiteQuality
SIO_000300: 2.382e1

MQ
type: SiteQuality
SIO_000300: 5.79e1

MQRankSum
type: SiteQuality
SIO_000300: -1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.009e0

FS
type: SiteQuality
SIO_000300: 3.923e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.596488e6

VQSLOD
type: SiteQuality
SIO_000300: -2.327e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1549
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.072135785007072e-4
allele num: 7070
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.341e1

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

FS
type: SiteQuality
SIO_000300: 3.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

DP
type: SiteQuality
SIO_000300: 1.589246e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 146
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4725
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variant carriers: 21

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 7.709251101321586e-3
allele num: 2724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

DP
type: SiteQuality
SIO_000300: 3.00466e5

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

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 45

GenotypeQuality
all individuals: 5231
bin: 9.75e1
variant carriers: 3313

GenotypeQuality
all individuals: 30
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 353
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29
bin: 6.75e1
variant carriers: 10

GenotypeQuality
all individuals: 11
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 19

Other
type: Population
allele count: 49
allele frequency: 4.152542372881356e-1
allele num: 118
num of homozygotes: 10

African
type: Population
allele count: 49
allele frequency: 2.606382978723404e-1
allele num: 188
num of homozygotes: 6

South Asian
type: Population
allele count: 3089
allele frequency: 4.115374367172928e-1
allele num: 7506
num of homozygotes: 662

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

East Asian
type: Population
allele count: 47
allele frequency: 3.560606060606061e-1
allele num: 132
num of homozygotes: 10

Latino
type: Population
allele count: 39
allele frequency: 4.239130434782609e-1
allele num: 92
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 910
allele frequency: 3.335777126099707e-1
allele num: 2728
num of homozygotes: 169

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.859999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.622e1

DP
type: SiteQuality
SIO_000300: 4.2663e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 1.116e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

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

GenotypeQuality
all individuals: 29
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 44
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.857e0

FS
type: SiteQuality
SIO_000300: 1.0703e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.195e0

DP
type: SiteQuality
SIO_000300: 3.60098e5

QD
type: SiteQuality
SIO_000300: 5.02e0