19-50411911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411911
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411911
    reference: chr 19
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4333A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4333A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4333A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4333A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4333A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1154A>G
  hgvsp: ENSP00000305503.2:p.Asp385Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1154A>G
  hgvsp: ENSP00000473192.1:p.Asp385Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1154A>G
  hgvsp: ENSP00000387991.1:p.Asp385Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.926A>G
  hgvsp: ENSP00000469283.1:p.Asp309Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1154A>G
  hgvsp: ENSP00000407331.1:p.Asp385Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4333A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1154A>G
  hgvsp: ENSP00000471191.1:p.Asp385Gly
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp385Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-50411915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411915
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411915
    reference: chr 19
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1150C>T
  hgvsp: ENST00000596217.1:c.1150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1150C>T
  hgvsp: ENST00000597029.1:c.1150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.922C>T
  hgvsp: ENST00000597723.1:c.922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1150C>T
  hgvsp: ENST00000413454.1:c.1150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4337C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1150C>T
  hgvsp: ENST00000422090.2:c.1150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4337C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4337C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4337C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4337C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1150C>T
  hgvsp: ENST00000352066.3:c.1150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4337C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu384Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50411931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411931
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411931
    reference: chr 19
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.906G>A
  hgvsp: ENST00000597723.1:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1134G>A
  hgvsp: ENST00000413454.1:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4353G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1134G>A
  hgvsp: ENST00000352066.3:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1134G>A
  hgvsp: ENST00000596217.1:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4353G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4353G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4353G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4353G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1134G>A
  hgvsp: ENST00000422090.2:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1134G>A
  hgvsp: ENST00000597029.1:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4353G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu378Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

19-50411933-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411933
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411933
    reference: chr 19
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4355G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1132G>A
  hgvsp: ENSP00000305503.2:p.Glu378Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1132G>A
  hgvsp: ENSP00000407331.1:p.Glu378Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.904G>A
  hgvsp: ENSP00000469283.1:p.Glu302Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4355G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1132G>A
  hgvsp: ENSP00000471191.1:p.Glu378Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1132G>A
  hgvsp: ENSP00000387991.1:p.Glu378Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1132G>A
  hgvsp: ENSP00000473192.1:p.Glu378Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4355G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4355G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4355G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4355G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu378Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

19-50411935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411935
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411935
    reference: chr 19
allele count: 11
allele frequency: 9.065137130801688e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1130G>A
  hgvsp: ENSP00000305503.2:p.Arg377His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4357G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1130G>A
  hgvsp: ENSP00000407331.1:p.Arg377His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.902G>A
  hgvsp: ENSP00000469283.1:p.Arg301His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4357G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4357G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1130G>A
  hgvsp: ENSP00000471191.1:p.Arg377His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1130G>A
  hgvsp: ENSP00000473192.1:p.Arg377His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4357G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1130G>A
  hgvsp: ENSP00000387991.1:p.Arg377His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4357G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4357G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
hgvs: p.Arg377His
num of homozygotes: 1
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-50411936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411936
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411936
    reference: chr 19
allele count: 5
allele frequency: 4.120584793393878e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4358C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1129C>T
  hgvsp: ENSP00000305503.2:p.Arg377Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.901C>T
  hgvsp: ENSP00000469283.1:p.Arg301Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1129C>T
  hgvsp: ENSP00000407331.1:p.Arg377Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4358C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1129C>T
  hgvsp: ENSP00000473192.1:p.Arg377Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1129C>T
  hgvsp: ENSP00000471191.1:p.Arg377Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4358C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1129C>T
  hgvsp: ENSP00000387991.1:p.Arg377Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4358C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4358C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4358C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg377Cys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

19-50411940-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411940
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411940
    reference: chr 19
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.897G>C
  hgvsp: ENST00000597723.1:c.897G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1125G>C
  hgvsp: ENST00000352066.3:c.1125G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4362G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1125G>C
  hgvsp: ENST00000597029.1:c.1125G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1125G>C
  hgvsp: ENST00000596217.1:c.1125G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1125G>C
  hgvsp: ENST00000413454.1:c.1125G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4362G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4362G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1125G>C
  hgvsp: ENST00000422090.2:c.1125G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4362G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4362G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4362G>C
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu375Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-50411944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411944
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411944
    reference: chr 19
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1121G>A
  hgvsp: ENSP00000473192.1:p.Ser374Asn
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1121G>A
  hgvsp: ENSP00000387991.1:p.Ser374Asn
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4366G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4366G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.893G>A
  hgvsp: ENSP00000469283.1:p.Ser298Asn
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1121G>A
  hgvsp: ENSP00000407331.1:p.Ser374Asn
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4366G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4366G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4366G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4366G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1121G>A
  hgvsp: ENSP00000305503.2:p.Ser374Asn
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1121G>A
  hgvsp: ENSP00000471191.1:p.Ser374Asn
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser374Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

19-50411948-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411948
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411948
    reference: chr 19
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4370A>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1117A>C
  hgvsp: ENSP00000387991.1:p.Thr373Pro
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1117A>C
  hgvsp: ENSP00000407331.1:p.Thr373Pro
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4370A>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1117A>C
  hgvsp: ENSP00000473192.1:p.Thr373Pro
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4370A>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4370A>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.889A>C
  hgvsp: ENSP00000469283.1:p.Thr297Pro
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1117A>C
  hgvsp: ENSP00000471191.1:p.Thr373Pro
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4370A>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1117A>C
  hgvsp: ENSP00000305503.2:p.Thr373Pro
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4370A>C
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr373Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

19-50411956-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411956
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411956
    reference: chr 19
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1109A>G
  hgvsp: ENSP00000305503.2:p.Glu370Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1109A>G
  hgvsp: ENSP00000387991.1:p.Glu370Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.881A>G
  hgvsp: ENSP00000469283.1:p.Glu294Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1109A>G
  hgvsp: ENSP00000407331.1:p.Glu370Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1109A>G
  hgvsp: ENSP00000471191.1:p.Glu370Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4378A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4378A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4378A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4378A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1109A>G
  hgvsp: ENSP00000473192.1:p.Glu370Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4378A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4378A>G
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu370Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-50411966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411966
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411966
    reference: chr 19
allele count: 2
allele frequency: 1.649103712132456e-5
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1099G>A
  hgvsp: ENSP00000305503.2:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1099G>A
  hgvsp: ENSP00000473192.1:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4388G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4388G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4388G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1099G>A
  hgvsp: ENSP00000407331.1:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4388G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.871G>A
  hgvsp: ENSP00000469283.1:p.Glu291Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1099G>A
  hgvsp: ENSP00000471191.1:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1099G>A
  hgvsp: ENSP00000387991.1:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4388G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4388G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu367Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

19-50411967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411967
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411967
    reference: chr 19
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1098C>T
  hgvsp: ENST00000413454.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1098C>T
  hgvsp: ENST00000352066.3:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4389C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4389C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4389C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.870C>T
  hgvsp: ENST00000597723.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4389C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1098C>T
  hgvsp: ENST00000422090.2:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1098C>T
  hgvsp: ENST00000597029.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4389C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4389C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1098C>T
  hgvsp: ENST00000596217.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile366Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

19-50411967-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411967
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411967
    reference: chr 19
allele count: 3
allele frequency: 2.473777953690877e-5
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4389C>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4389C>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1098C>G
  hgvsp: ENSP00000471191.1:p.Ile366Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4389C>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.870C>G
  hgvsp: ENSP00000469283.1:p.Ile290Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4389C>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1098C>G
  hgvsp: ENSP00000407331.1:p.Ile366Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1098C>G
  hgvsp: ENSP00000473192.1:p.Ile366Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4389C>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1098C>G
  hgvsp: ENSP00000305503.2:p.Ile366Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1098C>G
  hgvsp: ENSP00000387991.1:p.Ile366Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4389C>G
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile366Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-50411967-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411967
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411967
    reference: chr 19
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4389C>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4389C>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1098C>A
  hgvsp: ENST00000596217.1:c.1098C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.870C>A
  hgvsp: ENST00000597723.1:c.870C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1098C>A
  hgvsp: ENST00000422090.2:c.1098C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1098C>A
  hgvsp: ENST00000413454.1:c.1098C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4389C>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1098C>A
  hgvsp: ENST00000352066.3:c.1098C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4389C>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4389C>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1098C>A
  hgvsp: ENST00000597029.1:c.1098C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4389C>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile366Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

19-50411973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411973
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411973
    reference: chr 19
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1092G>A
  hgvsp: ENST00000352066.3:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4395G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.864G>A
  hgvsp: ENST00000597723.1:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4395G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4395G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1092G>A
  hgvsp: ENST00000597029.1:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1092G>A
  hgvsp: ENST00000422090.2:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1092G>A
  hgvsp: ENST00000413454.1:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4395G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1092G>A
  hgvsp: ENST00000596217.1:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4395G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4395G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr364Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-50411974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411974
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411974
    reference: chr 19
allele count: 2
allele frequency: 1.649375711293276e-5
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1091C>T
  hgvsp: ENSP00000387991.1:p.Thr364Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4396C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1091C>T
  hgvsp: ENSP00000407331.1:p.Thr364Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1091C>T
  hgvsp: ENSP00000305503.2:p.Thr364Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4396C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4396C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1091C>T
  hgvsp: ENSP00000471191.1:p.Thr364Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4396C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.863C>T
  hgvsp: ENSP00000469283.1:p.Thr288Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1091C>T
  hgvsp: ENSP00000473192.1:p.Thr364Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4396C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4396C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr364Met
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: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

19-50411977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411977
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411977
    reference: chr 19
allele count: 2
allele frequency: 1.649974425396406e-5
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1088G>A
  hgvsp: ENSP00000471191.1:p.Arg363His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.860G>A
  hgvsp: ENSP00000469283.1:p.Arg287His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1088G>A
  hgvsp: ENSP00000387991.1:p.Arg363His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1088G>A
  hgvsp: ENSP00000305503.2:p.Arg363His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4399G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4399G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4399G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1088G>A
  hgvsp: ENSP00000407331.1:p.Arg363His
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4399G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4399G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4399G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1088G>A
  hgvsp: ENSP00000473192.1:p.Arg363His
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg363His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

19-50411978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411978
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411978
    reference: chr 19
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4400C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4400C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4400C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1087C>T
  hgvsp: ENSP00000471191.1:p.Arg363Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.859C>T
  hgvsp: ENSP00000469283.1:p.Arg287Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4400C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1087C>T
  hgvsp: ENSP00000387991.1:p.Arg363Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4400C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1087C>T
  hgvsp: ENSP00000305503.2:p.Arg363Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1087C>T
  hgvsp: ENSP00000407331.1:p.Arg363Cys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4400C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1087C>T
  hgvsp: ENSP00000473192.1:p.Arg363Cys
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg363Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-50411987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411987
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411987
    reference: chr 19
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.850G>A
  hgvsp: ENSP00000469283.1:p.Ala284Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1078G>A
  hgvsp: ENSP00000305503.2:p.Ala360Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1078G>A
  hgvsp: ENSP00000473192.1:p.Ala360Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4409G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1078G>A
  hgvsp: ENSP00000407331.1:p.Ala360Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4409G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4409G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4409G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4409G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1078G>A
  hgvsp: ENSP00000387991.1:p.Ala360Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1078G>A
  hgvsp: ENSP00000471191.1:p.Ala360Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4409G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala360Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-50411988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50411988
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50411988
    reference: chr 19
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1077C>T
  hgvsp: ENST00000352066.3:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4410C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4410C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1077C>T
  hgvsp: ENST00000597029.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.849C>T
  hgvsp: ENST00000597723.1:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1077C>T
  hgvsp: ENST00000422090.2:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4410C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4410C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4410C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1077C>T
  hgvsp: ENST00000596217.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1077C>T
  hgvsp: ENST00000413454.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4410C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn359Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

19-50412000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412000
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412000
    reference: chr 19
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4422C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4422C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4422C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1065C>T
  hgvsp: ENST00000422090.2:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1065C>T
  hgvsp: ENST00000597029.1:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4422C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4422C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1065C>T
  hgvsp: ENST00000352066.3:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.837C>T
  hgvsp: ENST00000597723.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1065C>T
  hgvsp: ENST00000596217.1:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4422C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1065C>T
  hgvsp: ENST00000413454.1:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.837C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-50412011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412011
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412011
    reference: chr 19
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4433C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1054C>T
  hgvsp: ENSP00000305503.2:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1054C>T
  hgvsp: ENSP00000407331.1:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1054C>T
  hgvsp: ENSP00000473192.1:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4433C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1054C>T
  hgvsp: ENSP00000387991.1:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1054C>T
  hgvsp: ENSP00000471191.1:p.Leu352Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4433C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4433C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4433C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-9C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4433C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu352Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50412019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412019
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412019
    reference: chr 19
allele count: 2
allele frequency: 1.652592090694254e-5
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1046G>A
  hgvsp: ENSP00000407331.1:p.Arg349Gln
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4441G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4441G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4441G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1046G>A
  hgvsp: ENSP00000471191.1:p.Arg349Gln
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1046G>A
  hgvsp: ENSP00000473192.1:p.Arg349Gln
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1046G>A
  hgvsp: ENSP00000387991.1:p.Arg349Gln
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1046G>A
  hgvsp: ENSP00000305503.2:p.Arg349Gln
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-17G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4441G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4441G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4441G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg349Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

19-50412020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412020
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412020
    reference: chr 19
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1045C>T
  hgvsp: ENSP00000407331.1:p.Arg349Trp
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4442C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4442C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1045C>T
  hgvsp: ENSP00000387991.1:p.Arg349Trp
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1045C>T
  hgvsp: ENSP00000473192.1:p.Arg349Trp
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-18C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1045C>T
  hgvsp: ENSP00000471191.1:p.Arg349Trp
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1045C>T
  hgvsp: ENSP00000305503.2:p.Arg349Trp
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4442C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4442C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4442C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4442C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg349Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

19-50412036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412036
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412036
    reference: chr 19
allele count: 3
allele frequency: 2.483361478096752e-5
allele num: 120804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1029G>A
  hgvsp: ENST00000422090.2:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4458G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1029G>A
  hgvsp: ENST00000352066.3:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4458G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1029G>A
  hgvsp: ENST00000597029.1:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4458G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1029G>A
  hgvsp: ENST00000413454.1:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1029G>A
  hgvsp: ENST00000596217.1:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4458G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-34G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4458G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4458G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu343Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

19-50412038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412038
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412038
    reference: chr 19
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-36G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1027G>A
  hgvsp: ENSP00000471191.1:p.Glu343Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4460G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4460G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1027G>A
  hgvsp: ENSP00000473192.1:p.Glu343Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4460G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4460G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1027G>A
  hgvsp: ENSP00000387991.1:p.Glu343Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1027G>A
  hgvsp: ENSP00000407331.1:p.Glu343Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1027G>A
  hgvsp: ENSP00000305503.2:p.Glu343Lys
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4460G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4460G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu343Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

19-50412039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412039
    reference: chr 19
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1026G>A
  hgvsp: ENST00000413454.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4461G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1026G>A
  hgvsp: ENST00000596217.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4461G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1026G>A
  hgvsp: ENST00000422090.2:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4461G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1026G>A
  hgvsp: ENST00000352066.3:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-37G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4461G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4461G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1026G>A
  hgvsp: ENST00000597029.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4461G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu342Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-50412059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412059
    reference: chr 19
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4481C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4481C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.1006C>T
  hgvsp: ENST00000413454.1:c.1006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.1006C>T
  hgvsp: ENST00000596217.1:c.1006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4481C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4481C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.1006C>T
  hgvsp: ENST00000597029.1:c.1006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.1006C>T
  hgvsp: ENST00000422090.2:c.1006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.1006C>T
  hgvsp: ENST00000352066.3:c.1006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4481C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4481C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-57C>T
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu336Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-50412072-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412072
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412072
    reference: chr 19
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4494G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4494G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.993G>T
  hgvsp: ENST00000413454.1:c.993G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4494G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4494G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4494G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.993G>T
  hgvsp: ENST00000352066.3:c.993G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-70G>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.993G>T
  hgvsp: ENST00000597029.1:c.993G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.993G>T
  hgvsp: ENST00000596217.1:c.993G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.993G>T
  hgvsp: ENST00000422090.2:c.993G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4494G>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala331Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-50412072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412072
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412072
    reference: chr 19
allele count: 2
allele frequency: 1.666305633779348e-5
allele num: 120026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4494G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4494G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.993G>A
  hgvsp: ENST00000597029.1:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4494G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.993G>A
  hgvsp: ENST00000422090.2:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.993G>A
  hgvsp: ENST00000352066.3:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.993G>A
  hgvsp: ENST00000413454.1:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-70G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4494G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4494G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.993G>A
  hgvsp: ENST00000596217.1:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4494G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala331Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

19-50412073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412073
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412073
    reference: chr 19
allele count: 1
allele frequency: 8.333888925928395e-6
allele num: 119992
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4495C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.992C>T
  hgvsp: ENSP00000387991.1:p.Ala331Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.992C>T
  hgvsp: ENSP00000473192.1:p.Ala331Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-71C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.992C>T
  hgvsp: ENSP00000305503.2:p.Ala331Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.992C>T
  hgvsp: ENSP00000471191.1:p.Ala331Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4495C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4495C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4495C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4495C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.992C>T
  hgvsp: ENSP00000407331.1:p.Ala331Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4495C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala331Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-50412074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412074
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412074
    reference: chr 19
allele count: 22
allele frequency: 1.834219872938587e-4
allele num: 119942
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4496G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.991G>A
  hgvsp: ENSP00000407331.1:p.Ala331Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4496G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.991G>A
  hgvsp: ENSP00000473192.1:p.Ala331Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4496G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4496G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.991G>A
  hgvsp: ENSP00000387991.1:p.Ala331Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.991G>A
  hgvsp: ENSP00000471191.1:p.Ala331Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.991G>A
  hgvsp: ENSP00000305503.2:p.Ala331Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4496G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4496G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-72G>A
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
hgvs: p.Ala331Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

19-50412075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412075
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412075
    reference: chr 19
allele count: 11
allele frequency: 9.175230214867209e-5
allele num: 119888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-73C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4497C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4497C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4497C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4497C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4497C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.990C>T
  hgvsp: ENST00000422090.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.990C>T
  hgvsp: ENST00000597029.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.990C>T
  hgvsp: ENST00000352066.3:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.990C>T
  hgvsp: ENST00000596217.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.990C>T
  hgvsp: ENST00000413454.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4497C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr330Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-50412079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412079
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412079
    reference: chr 19
allele count: 2
allele frequency: 1.670955452327641e-5
allele num: 119692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.986C>T
  hgvsp: ENSP00000407331.1:p.Thr329Ile
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.986C>T
  hgvsp: ENSP00000387991.1:p.Thr329Ile
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.986C>T
  hgvsp: ENSP00000473192.1:p.Thr329Ile
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.986C>T
  hgvsp: ENSP00000305503.2:p.Thr329Ile
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.986C>T
  hgvsp: ENSP00000471191.1:p.Thr329Ile
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4501C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4501C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4501C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4501C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-77C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4501C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4501C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr329Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum

19-50412086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412086
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412086
    reference: chr 19
allele count: 2
allele frequency: 1.67897918065816e-5
allele num: 119120
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4508G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.979G>A
  hgvsp: ENSP00000471191.1:p.Ala327Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4508G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.979G>A
  hgvsp: ENSP00000305503.2:p.Ala327Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4508G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4508G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.979G>A
  hgvsp: ENSP00000473192.1:p.Ala327Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.979G>A
  hgvsp: ENSP00000387991.1:p.Ala327Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4508G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.979G>A
  hgvsp: ENSP00000407331.1:p.Ala327Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4508G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-84G>A
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala327Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-50412087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412087
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412087
    reference: chr 19
allele count: 3
allele frequency: 2.521474558321707e-5
allele num: 118978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.978C>T
  hgvsp: ENST00000352066.3:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.978C>T
  hgvsp: ENST00000422090.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-85C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.978C>T
  hgvsp: ENST00000596217.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4509C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.978C>T
  hgvsp: ENST00000597029.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4509C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4509C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.978C>T
  hgvsp: ENST00000413454.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4509C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4509C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4509C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser326Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-50412088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412088
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412088
    reference: chr 19
allele count: 1
allele frequency: 8.400678774845007e-6
allele num: 119038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-86C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.977C>T
  hgvsp: ENSP00000473192.1:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.977C>T
  hgvsp: ENSP00000471191.1:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4510C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.977C>T
  hgvsp: ENSP00000387991.1:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4510C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.977C>T
  hgvsp: ENSP00000407331.1:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.977C>T
  hgvsp: ENSP00000305503.2:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4510C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4510C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4510C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4510C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser326Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

19-50412092-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412092
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412092
    reference: chr 19
allele count: 1
allele frequency: 8.45508658008658e-6
allele num: 118272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4514A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4514A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.973A>G
  hgvsp: ENSP00000305503.2:p.Ser325Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.973A>G
  hgvsp: ENSP00000471191.1:p.Ser325Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.973A>G
  hgvsp: ENSP00000407331.1:p.Ser325Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.973A>G
  hgvsp: ENSP00000387991.1:p.Ser325Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-90A>G
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4514A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.973A>G
  hgvsp: ENSP00000473192.1:p.Ser325Gly
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4514A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4514A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4514A>G
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser325Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-50412093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412093
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412093
    reference: chr 19
allele count: 1
allele frequency: 8.44694474008751e-6
allele num: 118386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4515C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4515C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.972C>T
  hgvsp: ENST00000352066.3:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.972C>T
  hgvsp: ENST00000422090.2:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.972C>T
  hgvsp: ENST00000413454.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-91C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.972C>T
  hgvsp: ENST00000597029.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4515C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4515C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4515C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.972C>T
  hgvsp: ENST00000596217.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4515C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala324Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

19-50412100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412100
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412100
    reference: chr 19
allele count: 3
allele frequency: 2.535539816426917e-5
allele num: 118318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4522C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4522C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-98C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.965C>T
  hgvsp: ENSP00000471191.1:p.Ala322Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4522C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.965C>T
  hgvsp: ENSP00000387991.1:p.Ala322Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.965C>T
  hgvsp: ENSP00000407331.1:p.Ala322Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.965C>T
  hgvsp: ENSP00000473192.1:p.Ala322Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4522C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.965C>T
  hgvsp: ENSP00000305503.2:p.Ala322Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4522C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4522C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala322Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-50412102-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412102
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412102
    reference: chr 19
allele count: 2
allele frequency: 1.689246258319538e-5
allele num: 118396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4524G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4524G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.963G>T
  hgvsp: ENST00000422090.2:c.963G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.963G>T
  hgvsp: ENST00000596217.1:c.963G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-100G>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4524G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4524G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4524G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.963G>T
  hgvsp: ENST00000352066.3:c.963G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.963G>T
  hgvsp: ENST00000413454.1:c.963G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.963G>T
  hgvsp: ENST00000597029.1:c.963G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4524G>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly321Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-50412103-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412103
    reference: chr 19
allele count: 1
allele frequency: 8.453657052040712e-6
allele num: 118292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.962G>T
  hgvsp: ENSP00000387991.1:p.Gly321Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4525G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.962G>T
  hgvsp: ENSP00000471191.1:p.Gly321Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4525G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.962G>T
  hgvsp: ENSP00000473192.1:p.Gly321Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4525G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.962G>T
  hgvsp: ENSP00000305503.2:p.Gly321Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4525G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4525G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.962G>T
  hgvsp: ENSP00000407331.1:p.Gly321Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4525G>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-101G>T
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly321Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

19-50412105-TGCAGCTGCGCCAGGGCCAGGTGGAGCGGTCACG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412105
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412072
    reference: chr 19
allele count: 2
allele frequency: 1.691217507483638e-5
allele num: 118258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsp: ENSP00000305503.2:p.Val310_Ala320del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsp: ENSP00000407331.1:p.Val310_Ala320del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsp: ENSP00000471191.1:p.Val310_Ala320del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsp: ENSP00000387991.1:p.Val310_Ala320del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsp: ENSP00000473192.1:p.Val310_Ala320del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val310_Ala320del
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: TGCAGCTGCGCCAGGGCCAGGTGGAGCGGTCACG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-50412110-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412110
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412110
    reference: chr 19
allele count: 1
allele frequency: 8.460380040271409e-6
allele num: 118198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.955G>A
  hgvsp: ENSP00000387991.1:p.Ala319Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-108G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4532G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4532G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.955G>A
  hgvsp: ENSP00000407331.1:p.Ala319Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.955G>A
  hgvsp: ENSP00000305503.2:p.Ala319Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4532G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4532G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.955G>A
  hgvsp: ENSP00000471191.1:p.Ala319Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4532G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.955G>A
  hgvsp: ENSP00000473192.1:p.Ala319Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4532G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala319Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

19-50412111-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412111
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412111
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 118168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4533A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4533A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.954A>G
  hgvsp: ENST00000413454.1:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.954A>G
  hgvsp: ENST00000422090.2:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.954A>G
  hgvsp: ENST00000352066.3:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.954A>G
  hgvsp: ENST00000596217.1:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-109A>G
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4533A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4533A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.954A>G
  hgvsp: ENST00000597029.1:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4533A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4533A>G
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala318Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

19-50412113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412113
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412113
    reference: chr 19
allele count: 5
allele frequency: 4.232625074070939e-5
allele num: 118130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4535G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4535G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.952G>A
  hgvsp: ENSP00000471191.1:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.952G>A
  hgvsp: ENSP00000305503.2:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.952G>A
  hgvsp: ENSP00000473192.1:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.952G>A
  hgvsp: ENSP00000407331.1:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.952G>A
  hgvsp: ENSP00000387991.1:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4535G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4535G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4535G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-111G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4535G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala318Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

19-50412114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412114
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412114
    reference: chr 19
allele count: 1
allele frequency: 8.468691248454463e-6
allele num: 118082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.951C>T
  hgvsp: ENST00000597029.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4536C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.951C>T
  hgvsp: ENST00000596217.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.951C>T
  hgvsp: ENST00000422090.2:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.951C>T
  hgvsp: ENST00000352066.3:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.951C>T
  hgvsp: ENST00000413454.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.835-112C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4536C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4536C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4536C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4536C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4536C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly317Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-50412128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412128
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412128
    reference: chr 19
allele count: 1
allele frequency: 8.475869200386499e-6
allele num: 117982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+103C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.937C>T
  hgvsp: ENSP00000407331.1:p.Pro313Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4550C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.937C>T
  hgvsp: ENSP00000387991.1:p.Pro313Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4550C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.937C>T
  hgvsp: ENSP00000471191.1:p.Pro313Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4550C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.937C>T
  hgvsp: ENSP00000473192.1:p.Pro313Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4550C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.937C>T
  hgvsp: ENSP00000305503.2:p.Pro313Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4550C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4550C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro313Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

19-50412132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412132
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412132
    reference: chr 19
allele count: 4
allele frequency: 3.407619437061269e-5
allele num: 117384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4554C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4554C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.933C>T
  hgvsp: ENST00000422090.2:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4554C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.933C>T
  hgvsp: ENST00000596217.1:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.933C>T
  hgvsp: ENST00000597029.1:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+99C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4554C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.933C>T
  hgvsp: ENST00000413454.1:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4554C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.933C>T
  hgvsp: ENST00000352066.3:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4554C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr311Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-50412137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412137
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412137
    reference: chr 19
allele count: 3
allele frequency: 2.559028251671898e-5
allele num: 117232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.928G>A
  hgvsp: ENSP00000305503.2:p.Val310Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.928G>A
  hgvsp: ENSP00000473192.1:p.Val310Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4559G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+94G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4559G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.928G>A
  hgvsp: ENSP00000387991.1:p.Val310Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4559G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.928G>A
  hgvsp: ENSP00000407331.1:p.Val310Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4559G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.928G>A
  hgvsp: ENSP00000471191.1:p.Val310Met
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4559G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4559G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val310Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-50412138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412138
    reference: chr 19
allele count: 2
allele frequency: 1.705291519585273e-5
allele num: 117282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4560C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.927C>T
  hgvsp: ENST00000422090.2:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4560C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+93C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4560C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.927C>T
  hgvsp: ENST00000352066.3:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.927C>T
  hgvsp: ENST00000413454.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.927C>T
  hgvsp: ENST00000597029.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4560C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.927C>T
  hgvsp: ENST00000596217.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4560C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4560C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala309Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

19-50412142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412142
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412142
    reference: chr 19
allele count: 1
allele frequency: 8.506584096090374e-6
allele num: 117556
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.923C>T
  hgvsp: ENSP00000471191.1:p.Ala308Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.923C>T
  hgvsp: ENSP00000387991.1:p.Ala308Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4564C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4564C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+89C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4564C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.923C>T
  hgvsp: ENSP00000407331.1:p.Ala308Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4564C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.923C>T
  hgvsp: ENSP00000473192.1:p.Ala308Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.923C>T
  hgvsp: ENSP00000305503.2:p.Ala308Val
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4564C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4564C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala308Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50412153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412153
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412153
    reference: chr 19
allele count: 4
allele frequency: 3.407096983015622e-5
allele num: 117402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4575C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.912C>T
  hgvsp: ENST00000596217.1:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4575C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.912C>T
  hgvsp: ENST00000413454.1:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+78C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4575C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.912C>T
  hgvsp: ENST00000352066.3:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4575C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.912C>T
  hgvsp: ENST00000597029.1:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4575C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.912C>T
  hgvsp: ENST00000422090.2:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4575C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser304Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-50412164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412164
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412164
    reference: chr 19
allele count: 4
allele frequency: 3.406284595077919e-5
allele num: 117430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+67G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4586G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4586G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4586G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.901G>A
  hgvsp: ENSP00000407331.1:p.Gly301Arg
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4586G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4586G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.901G>A
  hgvsp: ENSP00000471191.1:p.Gly301Arg
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.901G>A
  hgvsp: ENSP00000387991.1:p.Gly301Arg
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.901G>A
  hgvsp: ENSP00000473192.1:p.Gly301Arg
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.901G>A
  hgvsp: ENSP00000305503.2:p.Gly301Arg
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4586G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly301Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-50412165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412165
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412165
    reference: chr 19
allele count: 1
allele frequency: 8.508031581813232e-6
allele num: 117536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.900C>T
  hgvsp: ENST00000352066.3:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.900C>T
  hgvsp: ENST00000422090.2:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4587C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4587C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4587C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4587C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.900C>T
  hgvsp: ENST00000596217.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.900C>T
  hgvsp: ENST00000597029.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.900C>T
  hgvsp: ENST00000413454.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4587C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4587C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+66C>T
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala300Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-50412171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412171
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412171
    reference: chr 19
allele count: 28
allele frequency: 2.378323282086129e-4
allele num: 117730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.894G>A
  hgvsp: ENST00000596217.1:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+60G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.894G>A
  hgvsp: ENST00000352066.3:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4593G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.894G>A
  hgvsp: ENST00000597029.1:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4593G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4593G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.894G>A
  hgvsp: ENST00000413454.1:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.894G>A
  hgvsp: ENST00000422090.2:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4593G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4593G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4593G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala298Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-50412189-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412189
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412189
    reference: chr 19
allele count: 1
allele frequency: 8.422896802668375e-6
allele num: 118724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.876G>C
  hgvsp: ENSP00000387991.1:p.Leu292Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4611G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4611G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4611G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.876G>C
  hgvsp: ENSP00000305503.2:p.Leu292Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4611G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4611G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.876G>C
  hgvsp: ENSP00000473192.1:p.Leu292Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+42G>C
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4611G>C
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.876G>C
  hgvsp: ENSP00000471191.1:p.Leu292Phe
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.876G>C
  hgvsp: ENSP00000407331.1:p.Leu292Phe
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu292Phe
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-50412200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412200
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412200
    reference: chr 19
allele count: 3
allele frequency: 2.524317592810744e-5
allele num: 118844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4622G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.865G>A
  hgvsp: ENSP00000471191.1:p.Gly289Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4622G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+31G>A
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.865G>A
  hgvsp: ENSP00000305503.2:p.Gly289Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.865G>A
  hgvsp: ENSP00000407331.1:p.Gly289Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.865G>A
  hgvsp: ENSP00000387991.1:p.Gly289Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.865G>A
  hgvsp: ENSP00000473192.1:p.Gly289Ser
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4622G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4622G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4622G>A
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4622G>A
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly289Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

19-50412201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412201
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412201
    reference: chr 19
allele count: 3
allele frequency: 2.519653295706511e-5
allele num: 119064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4623C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.864C>T
  hgvsp: ENST00000422090.2:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.864C>T
  hgvsp: ENST00000352066.3:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4623C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.864C>T
  hgvsp: ENST00000597029.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.864C>T
  hgvsp: ENST00000596217.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.864C>T
  hgvsp: ENST00000413454.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4623C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4623C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4623C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4623C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+30C>T
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr288Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-50412203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412203
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412203
    reference: chr 19
allele count: 2
allele frequency: 1.680276909634708e-5
allele num: 119028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.862A>G
  hgvsp: ENSP00000407331.1:p.Thr288Ala
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.862A>G
  hgvsp: ENSP00000387991.1:p.Thr288Ala
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.862A>G
  hgvsp: ENSP00000305503.2:p.Thr288Ala
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+28A>G
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.862A>G
  hgvsp: ENSP00000473192.1:p.Thr288Ala
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4625A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4625A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4625A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4625A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4625A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4625A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.862A>G
  hgvsp: ENSP00000471191.1:p.Thr288Ala
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr288Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50412204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412204
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412204
    reference: chr 19
allele count: 7
allele frequency: 5.874454514937899e-5
allele num: 119160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4626C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.861C>T
  hgvsp: ENST00000597029.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.861C>T
  hgvsp: ENST00000422090.2:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4626C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.861C>T
  hgvsp: ENST00000352066.3:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4626C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.861C>T
  hgvsp: ENST00000413454.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4626C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4626C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4626C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.861C>T
  hgvsp: ENST00000596217.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+27C>T
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr287Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-50412205-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412205
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412205
    reference: chr 19
allele count: 1
allele frequency: 8.496465470364328e-6
allele num: 117696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.860C>T
  hgvsp: ENSP00000473192.1:p.Thr287Ile
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+26C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4627C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.860C>T
  hgvsp: ENSP00000407331.1:p.Thr287Ile
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4627C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4627C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4627C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.860C>T
  hgvsp: ENSP00000305503.2:p.Thr287Ile
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.860C>T
  hgvsp: ENSP00000387991.1:p.Thr287Ile
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4627C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4627C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.860C>T
  hgvsp: ENSP00000471191.1:p.Thr287Ile
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr287Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

19-50412205-G-GTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412205
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412208
    reference: chr 19
allele count: 331
allele frequency: 2.812330070690593e-3
allele num: 117696
alternate allele: GTGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.857_859dupGCA
  hgvsp: ENSP00000305503.2:p.Ser286dup
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.857_859dupGCA
  hgvsp: ENSP00000473192.1:p.Ser286dup
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4630_-227-4628dupGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+23_834+25dupGCA
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4630_-227-4628dupGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4630_-227-4628dupGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.857_859dupGCA
  hgvsp: ENSP00000407331.1:p.Ser286dup
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.857_859dupGCA
  hgvsp: ENSP00000387991.1:p.Ser286dup
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4630_-328-4628dupGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.857_859dupGCA
  hgvsp: ENSP00000471191.1:p.Ser286dup
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4630_-145-4628dupGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4630_-285-4628dupGCA
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 3.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser286dup
num of homozygotes: 7
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-50412205-GTGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412205
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412202
    reference: chr 19
allele count: 74
allele frequency: 6.287384448069604e-4
allele num: 117696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.857_859delGCA
  hgvsp: ENSP00000305503.2:p.Ser286del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.857_859delGCA
  hgvsp: ENSP00000471191.1:p.Ser286del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4630_-145-4628delGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.857_859delGCA
  hgvsp: ENSP00000407331.1:p.Ser286del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.857_859delGCA
  hgvsp: ENSP00000387991.1:p.Ser286del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.857_859delGCA
  hgvsp: ENSP00000473192.1:p.Ser286del
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4630_-328-4628delGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4630_-227-4628delGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4630_-227-4628delGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4630_-285-4628delGCA
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+23_834+25delGCA
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4630_-227-4628delGCA
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
hgvs: p.Ser286del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: GTGC
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

19-50412206-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412206
    reference: chr 19
allele count: 5
allele frequency: 5.782084788491338e-5
allele num: 86474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.859A>G
  hgvsp: ENSP00000473192.1:p.Thr287Ala
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4628A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4628A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4628A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.859A>G
  hgvsp: ENSP00000387991.1:p.Thr287Ala
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+25A>G
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.859A>G
  hgvsp: ENSP00000407331.1:p.Thr287Ala
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4628A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4628A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.859A>G
  hgvsp: ENSP00000305503.2:p.Thr287Ala
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4628A>G
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.859A>G
  hgvsp: ENSP00000471191.1:p.Thr287Ala
  variant of: http://identifiers.org/hgnc/8066
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr287Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

19-50412207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412207
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412207
    reference: chr 19
allele count: 1
allele frequency: 1.139211665527455e-5
allele num: 87780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.858C>T
  hgvsp: ENST00000597029.1:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.858C>T
  hgvsp: ENST00000413454.1:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  hgvsc: ENST00000596011.1:c.-328-4629C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.858C>T
  hgvsp: ENST00000352066.3:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.858C>T
  hgvsp: ENST00000422090.2:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.858C>T
  hgvsp: ENST00000596217.1:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  hgvsc: ENST00000596022.1:c.-227-4629C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  hgvsc: ENST00000601717.1:c.-227-4629C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  hgvsc: ENST00000341114.3:c.-227-4629C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  hgvsc: ENST00000597295.1:c.-145-4629C>T
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+24C>T
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  hgvsc: ENST00000595948.1:c.-285-4629C>T
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser286Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

19-50412214-C-CTGGTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50412214
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50412220
    reference: chr 19
allele count: 10
allele frequency: 8.388558006878618e-5
allele num: 119210
alternate allele: CTGGTGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000471950
  ensembl transcript: ENST00000596022
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000342557
  ensembl transcript: ENST00000341114
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472474
  ensembl transcript: ENST00000595948
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469467
  ensembl transcript: ENST00000601717
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000387991
  ensembl transcript: ENST00000413454
  gene symbol: NUP62
  hgvsc: ENST00000413454.1:c.850_851insCCACCA
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000305503
  ensembl transcript: ENST00000352066
  gene symbol: NUP62
  hgvsc: ENST00000352066.3:c.850_851insCCACCA
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000407331
  ensembl transcript: ENST00000422090
  gene symbol: NUP62
  hgvsc: ENST00000422090.2:c.850_851insCCACCA
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000471191
  ensembl transcript: ENST00000596217
  gene symbol: NUP62
  hgvsc: ENST00000596217.1:c.850_851insCCACCA
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000469283
  ensembl transcript: ENST00000597723
  gene symbol: NUP62
  hgvsc: ENST00000597723.1:c.834+16_834+17insCCACCA
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000472786
  ensembl transcript: ENST00000596011
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000213024
  ensembl protein: ENSP00000473192
  ensembl transcript: ENST00000597029
  gene symbol: NUP62
  hgvsc: ENST00000597029.1:c.850_851insCCACCA
  variant of: http://identifiers.org/hgnc/8066
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104951
  ensembl protein: ENSP00000469841
  ensembl transcript: ENST00000597295
  gene symbol: IL4I1
  variant of: http://identifiers.org/hgnc/19094
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser283_Ser284insThrThr
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 2290
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1024
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31288
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11718
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2541
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5058
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.901479e6

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

FS
type: SiteQuality
SIO_000300: 1.607e0

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.38e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 1023
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6099
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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South Asian
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African
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Latino
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DP
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BaseQRankSum
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MQ
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QD
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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Other
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African
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
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allele num: 10396
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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Other
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South Asian
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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DP
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QD
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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African
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VQSLOD
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QD
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 6099
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.67233e2

VQSLOD
type: SiteQuality
SIO_000300: -6.14e2

DP
type: SiteQuality
SIO_000300: 2.897927e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.961e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

QD
type: SiteQuality
SIO_000300: 7.0e-1

GenotypeDepth
all individuals: 6102
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1141
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11690
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

DP
type: SiteQuality
SIO_000300: 2.894811e6

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 4961
bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 2.893929e6

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

MQ
type: SiteQuality
SIO_000300: 5.986e1

QD
type: SiteQuality
SIO_000300: 1.19e1

MQRankSum
type: SiteQuality
SIO_000300: -9.59e-1

BaseQRankSum
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SIO_000300: -1.959e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 1.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

GenotypeDepth
all individuals: 5450
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 790
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 2.894046e6

FS
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.243e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

GenotypeDepth
all individuals: 982
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 5974
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variant carriers: 0

GenotypeDepth
all individuals: 2290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
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
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31220
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2542
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.894046e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.973e1

MQRankSum
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SIO_000300: -8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

InbreedingCoeff
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SIO_000300: 1.2e-3

BaseQRankSum
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DP
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SIO_000300: 2.894046e6

FS
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
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SIO_000300: -8.799999999999999e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2544
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2523
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variant carriers: 0

GenotypeQuality
all individuals: 11620
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.143e1

InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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Latino
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num of homozygotes: 0

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

South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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ReadPosRankSum
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SIO_000300: 2.25e0

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

African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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DP
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.504166541319455e-5
allele num: 66482
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East Asian
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South Asian
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African
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European (Finnish)
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Latino
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Other
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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MQRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

East Asian
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Other
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South Asian
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African
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Latino
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European (Non-Finnish)
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FS
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QD
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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Latino
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South Asian
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MQRankSum
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VQSLOD
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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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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South Asian
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Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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East Asian
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African
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European (Non-Finnish)
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BaseQRankSum
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QD
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FS
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SIO_000300: 9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.857494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2524
bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

ClippingRankSum
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SIO_000300: -2.28e-1

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.93e1

BaseQRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 2.857494e6

FS
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516392199678525e-5
allele num: 65946
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.816e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 7.13e-1

DP
type: SiteQuality
SIO_000300: 2.856813e6

VQSLOD
type: SiteQuality
SIO_000300: -9.685e-1

ClippingRankSum
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SIO_000300: -4.49e-1

QD
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SIO_000300: 1.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 34
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GenotypeQuality
all individuals: 10204
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.881844380403458e-4
allele num: 65930
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
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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: 8646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.856083e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
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SIO_000300: -3.66e-1

MQRankSum
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SIO_000300: -1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 10
allele frequency: 1.517496737382015e-4
allele num: 65898
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.852805e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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SIO_000300: 3.88e-1

MQ
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SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 199
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variant carriers: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.040530268478823e-5
allele num: 65778
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65428
num of homozygotes: 0

Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9520
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.407e1

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 9492
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.061943109097033e-5
allele num: 65318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9498
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East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
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VQSLOD
type: SiteQuality
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FS
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SIO_000300: 4.935e0

DP
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Latino
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East Asian
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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African
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South Asian
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European (Finnish)
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Other
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 64970
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Latino
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European (Finnish)
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East Asian
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Other
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African
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South Asian
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Other
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QD
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MQRankSum
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ClippingRankSum
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FS
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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Latino
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African
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South Asian
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DP
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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QD
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SIO_000300: 1.25e0

GenotypeDepth
all individuals: 1601
bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2499
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31174
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54054720236628e-5
allele num: 64912
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

DP
type: SiteQuality
SIO_000300: 2.81191e6

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 1.707e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.373e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 2.811791e6

BaseQRankSum
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SIO_000300: -6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 6.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.224e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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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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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
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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: 16466
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.342162396873643e-4
allele num: 9212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 2.811441e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

FS
type: SiteQuality
SIO_000300: 7.606e0

QD
type: SiteQuality
SIO_000300: 1.262e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2985
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1892
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 229
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variant carriers: 0

GenotypeQuality
all individuals: 4316
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64844
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 2.681e0

DP
type: SiteQuality
SIO_000300: 2.810855e6

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2420
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 1
allele frequency: 1.54354335813293e-5
allele num: 64786
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.457e1

DP
type: SiteQuality
SIO_000300: 2.807134e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 2.468e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2495
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

Other
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: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.105879429760537e-5
allele num: 64394
num of homozygotes: 0

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

South Asian
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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
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 174
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

African
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.10896937665164e-5
allele num: 64330
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

FS
type: SiteQuality
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 2.98e0

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.107327077248151e-5
allele num: 64364
num of homozygotes: 0

Other
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European (Finnish)
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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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East Asian
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.979e1

MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele frequency: 1.55053183241852e-5
allele num: 64494
num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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Other
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.62e-1

ReadPosRankSum
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SIO_000300: 4.34e-1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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allele num: 11494
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European (Finnish)
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African
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 4.657517232813761e-5
allele num: 64412
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.971e1

ClippingRankSum
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SIO_000300: 3.65e-1

DP
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SIO_000300: 2.789322e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11494
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele count: 3
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allele num: 64418
num of homozygotes: 0

South Asian
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FS
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SIO_000300: 0.0e0

DP
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QD
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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SIO_000300: 1.59e-1

InbreedingCoeff
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SIO_000300: -1.7e-3

ReadPosRankSum
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SIO_000300: -2.38e-1

ClippingRankSum
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SIO_000300: -6.68e-1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

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

European (Finnish)
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Other
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South Asian
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allele num: 16358
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Latino
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allele count: 0
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.560591987119945e-4
allele num: 64596
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East Asian
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Other
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African
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European (Finnish)
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Latino
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allele num: 11490
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South Asian
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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Latino
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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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Other
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ClippingRankSum
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QD
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534683855125844e-5
allele num: 65160
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.179705846001731e-5
allele num: 16182
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.9209e1

InbreedingCoeff
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SIO_000300: -1.8e-3

BaseQRankSum
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SIO_000300: -4.13e-1

VQSLOD
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QD
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SIO_000300: 2.582e1

ReadPosRankSum
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SIO_000300: 1.64e-1

MQRankSum
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SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 2.775979e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.153846153846154e-5
allele num: 16250
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531721961829489e-5
allele num: 65286
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.00664384940608e-4
allele num: 9934
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.538e1

DP
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SIO_000300: 2.776973e6

VQSLOD
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SIO_000300: 1.88e0

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.899e0

BaseQRankSum
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SIO_000300: 8.06e-1

ClippingRankSum
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SIO_000300: -5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 657
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65308
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

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

VQSLOD
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SIO_000300: -5.55e-2

MQ
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SIO_000300: 5.936e1

FS
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SIO_000300: 3.18e0

QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -5.0e-4

DP
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SIO_000300: 2.777361e6

BaseQRankSum
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SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 841
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GenotypeQuality
all individuals: 2395
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65358
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.113120074177098e-4
allele num: 8628
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.093e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQRankSum
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.287e1

VQSLOD
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SIO_000300: 2.47e0

InbreedingCoeff
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SIO_000300: 4.0e-4

BaseQRankSum
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SIO_000300: -2.191e0

MQ
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SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.778106e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64698
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.009081735620585e-4
allele num: 9910
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQ
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SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 2.679683e6

MQRankSum
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SIO_000300: -8.3e-2

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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SIO_000300: 3.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.04e-2

QD
type: SiteQuality
SIO_000300: 1.304e1

GenotypeDepth
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variant carriers: 15

GenotypeDepth
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 319

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2374
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 42
allele frequency: 6.491699897987573e-4
allele num: 64698
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 277
allele frequency: 2.795156407669021e-2
allele num: 9910
num of homozygotes: 7

Latino
type: Population
allele count: 11
allele frequency: 9.635599159074983e-4
allele num: 11416
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.298022420959819e-5
allele num: 15878
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.04e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.34e-1

QD
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.5e0
variant carriers: 54

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3029
bin: 6.75e1
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GenotypeQuality
all individuals: 814
bin: 3.75e1
variant carriers: 13

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.271558482282847e-4
allele num: 6378
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.456221198156682e-3
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.255781359495446e-4
allele num: 11416
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.019185774450163e-4
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.557626905151782e-4
allele num: 15878
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.027245206861756e-4
allele num: 9910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.182571331416737e-4
allele num: 64698
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.04e-2

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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QD
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SIO_000300: 1.304e1

BaseQRankSum
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MQRankSum
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SIO_000300: -8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
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SIO_000300: 3.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5068
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25833
bin: 9.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.52993759487266e-4
allele num: 11858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.101890971737971e-5
allele num: 48758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 9.358000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

DP
type: SiteQuality
SIO_000300: 2.203623e6

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.322e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeDepth
all individuals: 1099
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3491
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5247
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.345852111500584e-5
allele num: 11982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49222
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

FS
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.36e-1

DP
type: SiteQuality
SIO_000300: 2.21384e6

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7296
bin: 6.25e1
variant carriers: 0