16-27268848-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268848
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268848
    reference: chr 16
allele count: 1
allele frequency: 8.300270588821196e-6
allele num: 120478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.44A>G
  hgvsp: ENSP00000455237.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.44A>G
  hgvsp: ENSP00000458859.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.112A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.44A>G
  hgvsp: ENSP00000355077.4:p.His15Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.44A>G
  hgvsp: ENSP00000454726.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.74A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.44A>G
  hgvsp: ENSP00000456103.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.91A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.44A>G
  hgvsp: ENSP00000456053.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.285A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.44A>G
  hgvsp: ENSP00000456754.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His15Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

16-27268854-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268854
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268852
    reference: chr 16
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.36_37delTG
  hgvsp: ENSP00000455237.1:p.Asp13CysfsTer32
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.36_37delTG
  hgvsp: ENSP00000456103.1:p.Asp13CysfsTer32
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.36_37delTG
  hgvsp: ENSP00000456053.1:p.Asp13CysfsTer32
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.277_278delTG
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.36_37delTG
  hgvsp: ENSP00000456754.1:p.Asp13CysfsTer32
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.36_37delTG
  hgvsp: ENSP00000454726.1:p.Asp13CysfsTer32
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.36_37delTG
  hgvsp: ENSP00000458859.1:p.Asp13CysfsTer32
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.83_84delTG
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.36_37delTG
  hgvsp: ENSP00000355077.4:p.Asp13CysfsTer32
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.66_67delTG
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.104_105delTG
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp13CysfsTer32
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: TCA
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

16-27268857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268857
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268857
    reference: chr 16
allele count: 10
allele frequency: 8.311584686736373e-5
allele num: 120314
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.35C>T
  hgvsp: ENSP00000355077.4:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.35C>T
  hgvsp: ENSP00000456053.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.35C>T
  hgvsp: ENSP00000456103.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.35C>T
  hgvsp: ENSP00000456754.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.276C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.103C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.35C>T
  hgvsp: ENSP00000458859.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.35C>T
  hgvsp: ENSP00000454726.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.82C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.65C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.35C>T
  hgvsp: ENSP00000455237.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr12Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

16-27268864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268864
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268864
    reference: chr 16
allele count: 6
allele frequency: 4.99542086420781e-5
allele num: 120110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.28G>A
  hgvsp: ENSP00000458859.1:p.Val10Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.96G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.28G>A
  hgvsp: ENSP00000456053.1:p.Val10Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.58G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.28G>A
  hgvsp: ENSP00000456754.1:p.Val10Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.28G>A
  hgvsp: ENSP00000454726.1:p.Val10Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.28G>A
  hgvsp: ENSP00000455237.1:p.Val10Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.28G>A
  hgvsp: ENSP00000355077.4:p.Val10Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.28G>A
  hgvsp: ENSP00000456103.1:p.Val10Ile
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.269G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.75G>A
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val10Ile
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-27268865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268865
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268865
    reference: chr 16
allele count: 3
allele frequency: 2.497419333355533e-5
allele num: 120124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.27C>T
  hgvsp: ENST00000564342.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.27C>T
  hgvsp: ENST00000567710.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.57C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.95C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.27C>T
  hgvsp: ENST00000563900.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.27C>T
  hgvsp: ENST00000361439.4:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.74C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.27C>T
  hgvsp: ENST00000569236.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.27C>T
  hgvsp: ENST00000563273.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.268C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.27C>T
  hgvsp: ENST00000566087.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly9Gly
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

16-27268877-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268877
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268877
    reference: chr 16
allele count: 4
allele frequency: 3.348008771782982e-5
allele num: 119474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.15A>G
  hgvsp: ENST00000567710.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.15A>G
  hgvsp: ENST00000563273.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.256A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.15A>G
  hgvsp: ENST00000361439.4:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.83A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.15A>G
  hgvsp: ENST00000569236.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.15A>G
  hgvsp: ENST00000566087.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.62A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.15A>G
  hgvsp: ENST00000564342.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.15A>G
  hgvsp: ENST00000563900.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.45A>G
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr5Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

16-27268884-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268884
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268884
    reference: chr 16
allele count: 2
allele frequency: 1.678584617450566e-5
allele num: 119148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.8G>A
  hgvsp: ENSP00000456103.1:p.Gly3Asp
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.8G>A
  hgvsp: ENSP00000355077.4:p.Gly3Asp
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.8G>A
  hgvsp: ENSP00000455237.1:p.Gly3Asp
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.55G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.76G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.8G>A
  hgvsp: ENSP00000456053.1:p.Gly3Asp
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.38G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.8G>A
  hgvsp: ENSP00000458859.1:p.Gly3Asp
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.8G>A
  hgvsp: ENSP00000456754.1:p.Gly3Asp
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.249G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.8G>A
  hgvsp: ENSP00000454726.1:p.Gly3Asp
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly3Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

16-27268887-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268887
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268887
    reference: chr 16
allele count: 1
allele frequency: 8.405480373203328e-6
allele num: 118970
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.5A>G
  hgvsp: ENSP00000355077.4:p.Gln2Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.73A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.5A>G
  hgvsp: ENSP00000458859.1:p.Gln2Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.5A>G
  hgvsp: ENSP00000455237.1:p.Gln2Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.5A>G
  hgvsp: ENSP00000456053.1:p.Gln2Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.5A>G
  hgvsp: ENSP00000456103.1:p.Gln2Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.246A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.5A>G
  hgvsp: ENSP00000456754.1:p.Gln2Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.5A>G
  hgvsp: ENSP00000454726.1:p.Gln2Arg
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.35A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.52A>G
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln2Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

16-27268891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268891
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268891
    reference: chr 16
allele count: 1
allele frequency: 8.426161546369167e-6
allele num: 118678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.1A>G
  hgvsp: ENSP00000456754.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.1A>G
  hgvsp: ENSP00000455237.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.1A>G
  hgvsp: ENSP00000355077.4:p.Met1?
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.1A>G
  hgvsp: ENSP00000458859.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.1A>G
  hgvsp: ENSP00000454726.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.31A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.1A>G
  hgvsp: ENSP00000456103.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.1A>G
  hgvsp: ENSP00000456053.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.48A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.69A>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.242A>G
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
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: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-27268899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268899
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268899
    reference: chr 16
allele count: 1
allele frequency: 8.462098261885017e-6
allele num: 118174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.40G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.23G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.-8G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.61G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.234G>A
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

16-27268905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268905
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268905
    reference: chr 16
allele count: 1
allele frequency: 8.479175145841813e-6
allele num: 117936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.-11-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.-11-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.-11-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.231-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.-11-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.-11-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.37-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.-11-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.-11-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.58-3C>T
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.20-3C>T
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-11-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-27268908-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268908
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268908
    reference: chr 16
allele count: 6
allele frequency: 5.091995383257519e-5
allele num: 117832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.37-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.-11-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.-11-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.-11-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.-11-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.231-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.20-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.58-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.-11-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.-11-6T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.-11-6T>C
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-11-6T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/16-27268912-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268912
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268912
    reference: chr 16
allele count: 4
allele frequency: 3.399626041135475e-5
allele num: 117660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.37-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.-11-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.20-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.-11-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.58-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.-11-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.-11-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.-11-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.231-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.-11-10T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.-11-10T>G
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/16-27268913-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268913
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268913
    reference: chr 16
allele count: 1
allele frequency: 8.502389171357152e-6
allele num: 117614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.-11-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.58-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.37-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.-11-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.-11-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.-11-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.20-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.-11-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.231-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.-11-11T>G
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.-11-11T>G
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

16-27268918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268918
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268918
    reference: chr 16
allele count: 1
allele frequency: 8.514551368288405e-6
allele num: 117446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.-11-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.-11-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.20-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.231-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.-11-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.-11-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.-11-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.58-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.-11-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.-11-16T>C
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.37-16T>C
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

16-27268924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27268924
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27268924
    reference: chr 16
allele count: 1
allele frequency: 8.550516451193652e-6
allele num: 116952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000561960
  gene symbol: NSMCE1
  hgvsc: ENST00000561960.1:n.58-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000454726
  ensembl transcript: ENST00000567710
  gene symbol: NSMCE1
  hgvsc: ENST00000567710.1:c.-11-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000458859
  ensembl transcript: ENST00000563273
  gene symbol: NSMCE1
  hgvsc: ENST00000563273.1:c.-11-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565070
  gene symbol: NSMCE1
  hgvsc: ENST00000565070.1:n.37-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000565626
  gene symbol: NSMCE1
  hgvsc: ENST00000565626.1:n.20-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000455237
  ensembl transcript: ENST00000566087
  gene symbol: NSMCE1
  hgvsc: ENST00000566087.1:c.-11-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000355077
  ensembl transcript: ENST00000361439
  gene symbol: NSMCE1
  hgvsc: ENST00000361439.4:c.-11-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456053
  ensembl transcript: ENST00000569236
  gene symbol: NSMCE1
  hgvsc: ENST00000569236.1:c.-11-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456754
  ensembl transcript: ENST00000563900
  gene symbol: NSMCE1
  hgvsc: ENST00000563900.1:c.-11-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl protein: ENSP00000456103
  ensembl transcript: ENST00000564342
  gene symbol: NSMCE1
  hgvsc: ENST00000564342.1:c.-11-22G>A
  variant of: http://identifiers.org/hgnc/29897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169189
  ensembl transcript: ENST00000563512
  gene symbol: NSMCE1
  hgvsc: ENST00000563512.1:n.231-22G>A
  variant of: http://identifiers.org/hgnc/29897
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

16-27300091-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300091
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300091
    reference: chr 16
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.-10-30A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1475A>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.378169790518192e-4
  allele num: 7256
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

16-27300142-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300142
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300142
    reference: chr 16
allele count: 5
allele frequency: 4.674644727000748e-4
allele num: 10696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1424A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.12A>G
  hgvsp: ENST00000566854.1:c.12A>G(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln4Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 5
  allele frequency: 2.659574468085106e-2
  allele num: 188
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-27300143-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300143
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300143
    reference: chr 16
allele count: 1
allele frequency: 9.345794392523364e-5
allele num: 10700
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.13T>G
  hgvsp: ENSP00000455863.1:p.Cys5Gly
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1423T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys5Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

16-27300155-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300155
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300155
    reference: chr 16
allele count: 4
allele frequency: 3.725088470851183e-4
allele num: 10738
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.25T>A
  hgvsp: ENSP00000455863.1:p.Phe9Ile
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1411T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe9Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 92
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

16-27300170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300170
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300170
    reference: chr 16
allele count: 10
allele frequency: 9.302325581395349e-4
allele num: 10750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1396C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.40C>T
  hgvsp: ENSP00000455863.1:p.Arg14Trp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg14Trp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

16-27300170-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300170
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300169
    reference: chr 16
allele count: 1
allele frequency: 9.302325581395348e-5
allele num: 10750
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.42delG
  hgvsp: ENSP00000455863.1:p.Ile15LeufsTer24
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1394delG
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile15LeufsTer24
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 92
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CG
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

16-27300196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300196
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300196
    reference: chr 16
allele count: 7
allele frequency: 6.510416666666666e-4
allele num: 10752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1370C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.66C>T
  hgvsp: ENST00000566854.1:c.66C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Ser22Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

16-27300227-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300227
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300227
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 10726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1339T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.97T>C
  hgvsp: ENSP00000455863.1:p.Cys33Arg
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys33Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

16-27300255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300255
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300255
    reference: chr 16
allele count: 2
allele frequency: 1.89071658158442e-4
allele num: 10578
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.125T>C
  hgvsp: ENSP00000455863.1:p.Met42Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1311T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met42Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 2.704164413196323e-4
  allele num: 7396
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

16-27300255-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300255
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300255
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 10578
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.125T>G
  hgvsp: ENSP00000455863.1:p.Met42Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1311T>G
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4570
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met42Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7396
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

16-27300315-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300315
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300315
    reference: chr 16
allele count: 496
allele frequency: 5.847677434567319e-2
allele num: 8482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1251A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.144+41A>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 7.5e0
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 1.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 436
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 8
num of homozygotes: 14
population: Other
  type: Population
  allele count: 5
  allele frequency: 4.807692307692308e-2
  allele num: 104
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

16-27300320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27300320
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27300320
    reference: chr 16
allele count: 2
allele frequency: 2.503128911138924e-4
allele num: 7990
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.144+46G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-1246G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1884
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 532
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genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 348
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genotype quality: GenotypeQuality
  all individuals: 2556
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 1.136363636363636e-2
  allele num: 176
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-27301534-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301534
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301535
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 10428
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.24dupT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.145-24dupT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.89-24dupT
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 86
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genotype quality: GenotypeQuality
  all individuals: 770
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 506
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

16-27301574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301574
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301574
    reference: chr 16
allele count: 1
allele frequency: 9.281603861147207e-5
allele num: 10774
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.153C>T
  hgvsp: ENST00000566854.1:c.153C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.97C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.56C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
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genotype quality: GenotypeQuality
  all individuals: 1726
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 574
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 457
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genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 324
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys51Cys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

16-27301598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301598
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301598
    reference: chr 16
allele count: 1
allele frequency: 9.27299703264095e-5
allele num: 10784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.121C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.80C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.177C>T
  hgvsp: ENST00000566854.1:c.177C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His59His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-27301603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301603
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301603
    reference: chr 16
allele count: 16
allele frequency: 1.483679525222552e-3
allele num: 10784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.126T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.182T>C
  hgvsp: ENSP00000455863.1:p.Leu61Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.85T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu61Ser
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

16-27301605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301605
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301605
    reference: chr 16
allele count: 6
allele frequency: 5.564830272676684e-4
allele num: 10782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.128G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.184G>A
  hgvsp: ENSP00000455863.1:p.Val62Ile
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.87G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Val62Ile
num of homozygotes: 1
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

16-27301606-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301606
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301606
    reference: chr 16
allele count: 1
allele frequency: 9.276437847866419e-5
allele num: 10780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.88T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.129T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.185T>G
  hgvsp: ENSP00000455863.1:p.Val62Gly
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val62Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-27301616-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301616
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301616
    reference: chr 16
allele count: 1
allele frequency: 9.276437847866419e-5
allele num: 10780
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.195A>C
  hgvsp: ENSP00000455863.1:p.Glu65Asp
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.139A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.98A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu65Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

16-27301633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301633
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301633
    reference: chr 16
allele count: 22
allele frequency: 2.041195026906662e-3
allele num: 10778
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.212G>A
  hgvsp: ENSP00000455863.1:p.Gly71Asp
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.156G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.115G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly71Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

16-27301690-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301690
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301690
    reference: chr 16
allele count: 1
allele frequency: 9.293680297397769e-5
allele num: 10760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.*23T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.172T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.213T>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

16-27301692-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301692
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301692
    reference: chr 16
allele count: 191
allele frequency: 1.775753068055039e-2
allele num: 10756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.174C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.215C>G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.*25C>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 9.75e1
  variant carriers: 186
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 4
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-27301699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27301699
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27301699
    reference: chr 16
allele count: 1
allele frequency: 9.297136481963555e-5
allele num: 10756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000564990
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000564990.1:n.181G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000245888
  ensembl transcript: ENST00000566535
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566535.1:n.222G>A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000245888
  ensembl protein: ENSP00000455863
  ensembl transcript: ENST00000566854
  gene symbol: CTD-3203P2.2
  hgvsc: ENST00000566854.1:c.*32G>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

16-27351486-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351486
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351486
    reference: chr 16
allele count: 3
allele frequency: 2.959105166597621e-5
allele num: 101382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-307-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.304-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.163-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.-18-21C>G
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

16-27351490-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351490
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351490
    reference: chr 16
allele count: 1
allele frequency: 9.796814076062465e-6
allele num: 102074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.163-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.304-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.-18-17T>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-307-17T>G
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

16-27351495-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351495
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351495
    reference: chr 16
allele count: 1
allele frequency: 9.775362177168665e-6
allele num: 102298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.163-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-307-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.304-12C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.-18-12C>G
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14192
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

16-27351498-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351498
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351498
    reference: chr 16
allele count: 1
allele frequency: 9.658289710058143e-6
allele num: 103538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.304-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-307-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.-18-9T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.163-9T>C
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-27351501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351501
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351501
    reference: chr 16
allele count: 1
allele frequency: 9.596744784169209e-6
allele num: 104202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.304-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-307-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.163-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.-18-6C>T
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-18-6C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/16-27351516-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351516
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351516
    reference: chr 16
allele count: 7
allele frequency: 6.335873716985573e-5
allele num: 110482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.172C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-298C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.313C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.-9C>A
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31731
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

16-27351517-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351517
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351517
    reference: chr 16
allele count: 1
allele frequency: 8.998794161582347e-6
allele num: 111126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-297A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.173A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.314A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.-8A>G
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

16-27351519-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351519
    reference: chr 16
allele count: 6
allele frequency: 5.372204215389574e-5
allele num: 111686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.175C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.316C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-295C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

16-27351522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351522
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351522
    reference: chr 16
allele count: 1
allele frequency: 8.877998544008238e-6
allele num: 112638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-292C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.319C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.178C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-27351525-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351525
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351525
    reference: chr 16
allele count: 3
allele frequency: 2.63866167080057e-5
allele num: 113694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.1A>G
  hgvsp: ENSP00000410322.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.1A>G
  hgvsp: ENSP00000454725.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.322A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.1A>G
  hgvsp: ENSP00000455714.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-289A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.1A>G
  hgvsp: ENSP00000457131.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.1A>G
  hgvsp: ENSP00000170630.2:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.1A>G
  hgvsp: ENSP00000379111.2:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.1A>G
  hgvsp: ENSP00000441667.2:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.1A>G
  hgvsp: ENSP00000456930.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.1A>G
  hgvsp: ENSP00000456248.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.181A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.1A>G
  hgvsp: ENSP00000454684.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.1A>G
  hgvsp: ENSP00000455632.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

16-27351528-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351528
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351528
    reference: chr 16
allele count: 1
allele frequency: 8.744010352908258e-6
allele num: 114364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.4G>T
  hgvsp: ENSP00000457131.1:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.4G>T
  hgvsp: ENSP00000170630.2:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.4G>T
  hgvsp: ENSP00000441667.2:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.4G>T
  hgvsp: ENSP00000454725.1:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.4G>T
  hgvsp: ENSP00000379111.2:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.4G>T
  hgvsp: ENSP00000455632.1:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.4G>T
  hgvsp: ENSP00000456248.1:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.4G>T
  hgvsp: ENSP00000456930.1:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.184G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.4G>T
  hgvsp: ENSP00000455714.1:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-286G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.325G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.4G>T
  hgvsp: ENSP00000454684.1:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.4G>T
  hgvsp: ENSP00000410322.1:p.Gly2Trp
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

16-27351541-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351541
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351541
    reference: chr 16
allele count: 9
allele frequency: 7.710232335001028e-5
allele num: 116728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.17C>G
  hgvsp: ENSP00000457131.1:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.17C>G
  hgvsp: ENSP00000454684.1:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.338C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.17C>G
  hgvsp: ENSP00000410322.1:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.17C>G
  hgvsp: ENSP00000455632.1:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.17C>G
  hgvsp: ENSP00000170630.2:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.17C>G
  hgvsp: ENSP00000456248.1:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.17C>G
  hgvsp: ENSP00000454725.1:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.17C>G
  hgvsp: ENSP00000456930.1:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.17C>G
  hgvsp: ENSP00000441667.2:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.17C>G
  hgvsp: ENSP00000379111.2:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-273C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.17C>G
  hgvsp: ENSP00000455714.1:p.Ser6Cys
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.197C>G
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser6Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

16-27351541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351541
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351541
    reference: chr 16
allele count: 2
allele frequency: 1.713384963333562e-5
allele num: 116728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.338C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.17C>T
  hgvsp: ENSP00000170630.2:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.17C>T
  hgvsp: ENSP00000441667.2:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.17C>T
  hgvsp: ENSP00000410322.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.17C>T
  hgvsp: ENSP00000456248.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.17C>T
  hgvsp: ENSP00000379111.2:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.17C>T
  hgvsp: ENSP00000456930.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.17C>T
  hgvsp: ENSP00000455632.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.17C>T
  hgvsp: ENSP00000454725.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.17C>T
  hgvsp: ENSP00000457131.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.17C>T
  hgvsp: ENSP00000455714.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.197C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.17C>T
  hgvsp: ENSP00000454684.1:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-273C>T
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser6Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-27351550-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351550
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351550
    reference: chr 16
allele count: 1
allele frequency: 8.499065102838687e-6
allele num: 117660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-264T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.26T>C
  hgvsp: ENSP00000457131.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.26T>C
  hgvsp: ENSP00000454725.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.26T>C
  hgvsp: ENSP00000170630.2:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.347T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.26T>C
  hgvsp: ENSP00000441667.2:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.26T>C
  hgvsp: ENSP00000456930.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.26T>C
  hgvsp: ENSP00000456248.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.26T>C
  hgvsp: ENSP00000455714.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.26T>C
  hgvsp: ENSP00000379111.2:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.26T>C
  hgvsp: ENSP00000410322.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.26T>C
  hgvsp: ENSP00000455632.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.26T>C
  hgvsp: ENSP00000454684.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.206T>C
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu9Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-27351554-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351554
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351554
    reference: chr 16
allele count: 1
allele frequency: 8.477593719798572e-6
allele num: 117958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.30C>A
  hgvsp: ENSP00000454684.1:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.30C>A
  hgvsp: ENSP00000170630.2:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.30C>A
  hgvsp: ENSP00000456930.1:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.351C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.30C>A
  hgvsp: ENSP00000454725.1:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.210C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.30C>A
  hgvsp: ENSP00000457131.1:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.30C>A
  hgvsp: ENSP00000456248.1:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.30C>A
  hgvsp: ENSP00000455632.1:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.30C>A
  hgvsp: ENSP00000441667.2:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.30C>A
  hgvsp: ENSP00000455714.1:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.30C>A
  hgvsp: ENSP00000410322.1:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-260C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.30C>A
  hgvsp: ENSP00000379111.2:p.Phe10Leu
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11945
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe10Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-27351554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351554
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351554
    reference: chr 16
allele count: 9
allele frequency: 7.629834347818716e-5
allele num: 117958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-260C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.30C>T
  hgvsp: ENST00000566117.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454725
  ensembl transcript: ENST00000561742
  gene symbol: IL4R
  hgvsc: ENST00000561742.1:c.30C>T
  hgvsp: ENST00000561742.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.30C>T
  hgvsp: ENST00000563002.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.210C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.30C>T
  hgvsp: ENST00000170630.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.30C>T
  hgvsp: ENST00000566318.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.30C>T
  hgvsp: ENST00000449195.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.30C>T
  hgvsp: ENST00000543915.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.351C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.30C>T
  hgvsp: ENST00000395762.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.30C>T
  hgvsp: ENST00000568746.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.30C>T
  hgvsp: ENST00000562142.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.30C>T
  hgvsp: ENST00000563926.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35979
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe10Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-27351585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351585
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351585
    reference: chr 16
allele count: 2
allele frequency: 1.692706129288894e-5
allele num: 118154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.61G>A
  hgvsp: ENSP00000455632.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.61G>A
  hgvsp: ENSP00000456248.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.61G>A
  hgvsp: ENSP00000455714.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.61G>A
  hgvsp: ENSP00000170630.2:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.61G>A
  hgvsp: ENSP00000457131.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.61G>A
  hgvsp: ENSP00000441667.2:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.241G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.61G>A
  hgvsp: ENSP00000379111.2:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-229G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.61G>A
  hgvsp: ENSP00000410322.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.61G>A
  hgvsp: ENSP00000456930.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.61G>A
  hgvsp: ENSP00000454684.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.382G>A
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala21Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

16-27351586-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351586
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351586
    reference: chr 16
allele count: 1
allele frequency: 8.456373568758774e-6
allele num: 118254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.62C>G
  hgvsp: ENSP00000456930.1:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.62C>G
  hgvsp: ENSP00000379111.2:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.62C>G
  hgvsp: ENSP00000454684.1:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.62C>G
  hgvsp: ENSP00000410322.1:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-228C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.62C>G
  hgvsp: ENSP00000170630.2:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.62C>G
  hgvsp: ENSP00000455632.1:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.62C>G
  hgvsp: ENSP00000457131.1:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.383C>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.62C>G
  hgvsp: ENSP00000455714.1:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.62C>G
  hgvsp: ENSP00000456248.1:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.62C>G
  hgvsp: ENSP00000441667.2:p.Ala21Gly
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.242C>G
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala21Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-27351599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351599
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351599
    reference: chr 16
allele count: 2
allele frequency: 1.700362177143732e-5
allele num: 117622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+5G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+5G>A
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.70+5G>A
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-27351602-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351602
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351602
    reference: chr 16
allele count: 2
allele frequency: 1.706397283415525e-5
allele num: 117206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+8A>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+8A>C
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.70+8A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-27351603-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351603
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351603
    reference: chr 16
allele count: 1
allele frequency: 8.531695247845747e-6
allele num: 117210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+9C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+9C>A
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

16-27351603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351603
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351603
    reference: chr 16
allele count: 4
allele frequency: 3.412678099138299e-5
allele num: 117210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+9C>T
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-27351609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351609
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351609
    reference: chr 16
allele count: 1
allele frequency: 8.577653497109331e-6
allele num: 116582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+15C>T
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

16-27351609-CTCAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351609
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351605
    reference: chr 16
allele count: 1
allele frequency: 8.577653497109331e-6
allele num: 116582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+19_391+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+19_250+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+19_-220+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+19_70+22delATCA
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CTCAA
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

16-27351610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351610
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351610
    reference: chr 16
allele count: 1
allele frequency: 8.584575235217362e-6
allele num: 116488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+16T>C
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+16T>C
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

16-27351624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351624
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351624
    reference: chr 16
allele count: 25
allele frequency: 2.169498585486922e-4
allele num: 115234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+30G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+30G>A
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18954
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-27351635-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351635
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351635
    reference: chr 16
allele count: 3
allele frequency: 2.659102995922709e-5
allele num: 112820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+41A>G
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+41A>G
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10805
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/16-27351639-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351639
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351639
    reference: chr 16
allele count: 3
allele frequency: 2.702994918369553e-5
allele num: 110988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+45C>A
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

16-27351639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351639
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351639
    reference: chr 16
allele count: 1
allele frequency: 9.009983061231844e-6
allele num: 110988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+45C>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+45C>T
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

16-27351640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351640
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351640
    reference: chr 16
allele count: 8
allele frequency: 7.220737959419453e-5
allele num: 110792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+46G>A
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+46G>A
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16455
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

16-27351640-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27351640
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 27351640
    reference: chr 16
allele count: 1
allele frequency: 9.025922449274317e-6
allele num: 110792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000563787
  gene symbol: IL4R
  hgvsc: ENST00000563787.1:n.391+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl transcript: ENST00000561946
  gene symbol: IL4R
  hgvsc: ENST00000561946.1:n.250+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000410322
  ensembl transcript: ENST00000449195
  gene symbol: IL4R
  hgvsc: ENST00000449195.1:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000454684
  ensembl transcript: ENST00000563926
  gene symbol: IL4R
  hgvsc: ENST00000563926.1:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455714
  ensembl transcript: ENST00000568746
  gene symbol: IL4R
  hgvsc: ENST00000568746.1:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456930
  ensembl transcript: ENST00000563002
  gene symbol: IL4R
  hgvsc: ENST00000563002.1:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000370309
  ensembl transcript: ENST00000380922
  gene symbol: IL4R
  hgvsc: ENST00000380922.3:c.-220+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000456248
  ensembl transcript: ENST00000566318
  gene symbol: IL4R
  hgvsc: ENST00000566318.1:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000379111
  ensembl transcript: ENST00000395762
  gene symbol: IL4R
  hgvsc: ENST00000395762.2:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000441667
  ensembl transcript: ENST00000543915
  gene symbol: IL4R
  hgvsc: ENST00000543915.2:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000457131
  ensembl transcript: ENST00000562142
  gene symbol: IL4R
  hgvsc: ENST00000562142.1:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000170630
  ensembl transcript: ENST00000170630
  gene symbol: IL4R
  hgvsc: ENST00000170630.2:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077238
  ensembl protein: ENSP00000455632
  ensembl transcript: ENST00000566117
  gene symbol: IL4R
  hgvsc: ENST00000566117.1:c.70+46G>T
  variant of: http://identifiers.org/hgnc/6015
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 1231
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44918
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6871
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 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: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.102770657878677e-5
allele num: 16386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.291424e6

MQRankSum
type: SiteQuality
SIO_000300: -1.458e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.047e0

VQSLOD
type: SiteQuality
SIO_000300: -2.174e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.91e-1

FS
type: SiteQuality
SIO_000300: 4.36e0

QD
type: SiteQuality
SIO_000300: 1.21e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

GenotypeDepth
all individuals: 3016
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44918
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 2.012e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.005e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -1.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.464e0

DP
type: SiteQuality
SIO_000300: 3.290208e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeDepth
all individuals: 3272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44921
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.502629601803156e-4
allele num: 66550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
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: 9800
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

FS
type: SiteQuality
SIO_000300: 2.49e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.884e0

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 3.288997e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeDepth
all individuals: 4051
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44920
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6283
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1293
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.858736059479554e-4
allele num: 16140
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.041649652919559e-4
allele num: 9796
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 4.126e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

DP
type: SiteQuality
SIO_000300: 3.285682e6

QD
type: SiteQuality
SIO_000300: 1.355e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeDepth
all individuals: 1710
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 574
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44918
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1491
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6347
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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: 3
allele frequency: 1.857815209313847e-4
allele num: 16148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.113e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 3.285257e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

FS
type: SiteQuality
SIO_000300: 1.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeDepth
all individuals: 2964
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5195
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44916
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1395
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.649000464900046e-4
allele num: 8604
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

FS
type: SiteQuality
SIO_000300: 2.55e0

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 3.272394e6

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeDepth
all individuals: 1230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44914
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4822
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
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: 888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 2.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e0

DP
type: SiteQuality
SIO_000300: 3.266528e6

QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeDepth
all individuals: 2365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44913
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510482750286992e-5
allele num: 66204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.087e0

FS
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.33e0

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 3.262337e6

GenotypeDepth
all individuals: 6434
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44913
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1043
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
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: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.133e0

MQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

DP
type: SiteQuality
SIO_000300: 3.254726e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 7.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.571e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44912
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14764
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65998
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: 11558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 9.15e0

DP
type: SiteQuality
SIO_000300: 3.244903e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 3.616e0

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

GenotypeDepth
all individuals: 3011
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1708
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44912
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65930
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: 880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.84931506849315e-5
allele num: 14600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.238731e6

FS
type: SiteQuality
SIO_000300: 5.429e0

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.331e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeDepth
all individuals: 6132
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44914
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.125979920231055e-4
allele num: 14542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 9754
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.388e1

FS
type: SiteQuality
SIO_000300: 2.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

DP
type: SiteQuality
SIO_000300: 3.235593e6

GenotypeQuality
all individuals: 722
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 44909
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
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: 4
allele frequency: 3.460207612456747e-4
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 4.942e0

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

DP
type: SiteQuality
SIO_000300: 3.232567e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
all individuals: 774
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65836
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.52031135976648e-5
allele num: 65776
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Other
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allele frequency: 0.0e0
allele num: 874
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Latino
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DP
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8590
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Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
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South Asian
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Other
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allele frequency: 0.0e0
allele num: 872
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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SIO_000300: 5.968e1

DP
type: SiteQuality
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European (Finnish)
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allele num: 0
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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African
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QD
type: SiteQuality
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ClippingRankSum
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DP
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -2.648e0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2688
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Other
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allele frequency: 0.0e0
allele num: 118
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 132
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Latino
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.38e-1

MQ
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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VQSLOD
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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East Asian
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European (Finnish)
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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QD
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DP
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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Other
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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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InbreedingCoeff
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QD
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DP
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FS
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MQ
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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European (Finnish)
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allele frequency: NaN
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East Asian
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African
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 3.681885125184094e-4
allele num: 2716
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FS
type: SiteQuality
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MQ
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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European (Finnish)
type: Population
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allele frequency: NaN
allele num: 0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 188
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European (Non-Finnish)
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South Asian
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Other
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Latino
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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DP
type: SiteQuality
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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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European (Finnish)
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European (Non-Finnish)
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allele num: 2698
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DP
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2656
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East Asian
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Latino
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allele num: 92
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African
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Other
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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DP
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QD
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.939e0

Other
type: Population
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allele num: 116
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Latino
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allele count: 0
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allele num: 92
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European (Finnish)
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allele frequency: NaN
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2656
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East Asian
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African
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.975e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

South Asian
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allele frequency: 6.400270910938029e-2
allele num: 5906
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Latino
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allele frequency: 2.564102564102564e-2
allele num: 78
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European (Finnish)
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allele frequency: NaN
allele num: 0
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African
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allele count: 29
allele frequency: 1.559139784946237e-1
allele num: 186
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European (Non-Finnish)
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allele count: 68
allele frequency: 3.266090297790586e-2
allele num: 2082
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East Asian
type: Population
allele count: 14
allele frequency: 1.111111111111111e-1
allele num: 126
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.33e0

DP
type: SiteQuality
SIO_000300: 8.2493e4

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 128
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Other
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allele frequency: 0.0e0
allele num: 96
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 80
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 8.0378e4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2628
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7268
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African
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allele frequency: 0.0e0
allele num: 192
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Other
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allele num: 118
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East Asian
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allele frequency: 0.0e0
allele num: 130
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.59e-2

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.74742e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

South Asian
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: 3.654970760233918e-4
allele num: 2736
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African
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Latino
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QD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: -4.12e-2

DP
type: SiteQuality
SIO_000300: 1.73847e5

European (Non-Finnish)
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Latino
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East Asian
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Other
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South Asian
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African
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allele frequency: 5.263157894736842e-3
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European (Finnish)
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allele frequency: NaN
allele num: 0
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MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 1.535e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.062e0

BaseQRankSum
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DP
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SIO_000300: 1.73779e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.06e1

South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 1.457725947521866e-3
allele num: 2744
num of homozygotes: 0

African
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allele frequency: 5.208333333333334e-2
allele num: 192
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 8.474576271186441e-3
allele num: 118
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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SIO_000300: -3.33e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.74706e5

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

Latino
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Other
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South Asian
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allele frequency: 7.993605115907274e-4
allele num: 7506
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.05e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.322e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.74075e5

South Asian
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allele num: 7506
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

Other
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East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.27e-2

FS
type: SiteQuality
SIO_000300: 1.2173e1

DP
type: SiteQuality
SIO_000300: 1.73864e5

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.095e0

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

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

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.644314868804665e-4
allele num: 2744
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South Asian
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Other
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FS
type: SiteQuality
SIO_000300: 7.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.283e0

DP
type: SiteQuality
SIO_000300: 1.73517e5

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 7.34e0

South Asian
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allele frequency: 2.664535038635758e-3
allele num: 7506
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 7.293946024799417e-4
allele num: 2742
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 118
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MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.75089e5

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.83e-2

QD
type: SiteQuality
SIO_000300: 1.099e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

Latino
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East Asian
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

African
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Other
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South Asian
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allele num: 7502
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QD
type: SiteQuality
SIO_000300: 1.11e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
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SIO_000300: -3.9e-2

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

DP
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

Latino
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allele frequency: 1.08695652173913e-2
allele num: 92
num of homozygotes: 0

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

South Asian
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allele count: 190
allele frequency: 2.531982942430704e-2
allele num: 7504
num of homozygotes: 4

East Asian
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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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num of homozygotes: 0

DP
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VQSLOD
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FS
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SIO_000300: 0.0e0

QD
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 2.25e-1

ClippingRankSum
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SIO_000300: -7.5e-2

InbreedingCoeff
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SIO_000300: -4.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

East Asian
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South Asian
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allele num: 7502
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Latino
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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QD
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
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ClippingRankSum
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SIO_000300: -2.5e-2

FS
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 4.062838569880823e-4
allele num: 7384
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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South Asian
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Other
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MQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

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

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9022
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 frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.780943900267142e-5
allele num: 56150
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.776451360761742e-5
allele num: 56292
num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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East Asian
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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GenotypeDepth
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

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

Other
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num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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allele num: 57016
num of homozygotes: 0

South Asian
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DP
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MQRankSum
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MQ
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.1e-3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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bin: 9.75e1
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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 frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

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

Other
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African
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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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 (Finnish)
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Latino
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Other
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East Asian
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allele num: 8126
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South Asian
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QD
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FS
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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Other
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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East Asian
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele frequency: 0.0e0
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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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num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQRankSum
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MQ
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SIO_000300: 5.958e1

QD
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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SIO_000300: -5.07e-1

ReadPosRankSum
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FS
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GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62476
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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.663113006396588e-5
allele num: 15008
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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DP
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MQRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.172286901627383e-5
allele num: 63046
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.620762711864407e-5
allele num: 15104
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

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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SIO_000300: 7.28e-1

ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: 2.08e0

DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 9.221689413500554e-5
allele num: 10844
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63446
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9878
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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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QD
type: SiteQuality
SIO_000300: 1.004e1

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

BaseQRankSum
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SIO_000300: -2.013e0

ClippingRankSum
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FS
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MQ
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.717955050629786e-5
allele num: 64784
num of homozygotes: 0

East Asian
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European (Finnish)
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South Asian
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Latino
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allele num: 11094
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Other
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African
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InbreedingCoeff
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DP
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QD
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 64784
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Other
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Latino
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East Asian
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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DP
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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African
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.711532e6

ReadPosRankSum
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QD
type: SiteQuality
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
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SIO_000300: 1.19e0

ClippingRankSum
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SIO_000300: -1.551e0

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

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65422
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

South Asian
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allele count: 1
allele frequency: 6.414368184733804e-5
allele num: 15590
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.13e0

DP
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.22283024059185e-4
allele num: 65422
num of homozygotes: 0

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

Other
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allele count: 1
allele frequency: 1.15473441108545e-3
allele num: 866
num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -1.26e-1

InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.95e1

FS
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SIO_000300: 1.13e0

BaseQRankSum
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SIO_000300: -1.891e0

QD
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SIO_000300: 1.195e1

DP
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SIO_000300: 1.71762e6

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.05698214722426e-5
allele num: 65424
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.709e1

QD
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DP
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SIO_000300: 1.723574e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 65490
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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allele num: 15632
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European (Finnish)
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European (Non-Finnish)
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Other
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East Asian
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MQ
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DP
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

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

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

GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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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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allele frequency: 8.949346697691069e-5
allele num: 11174
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Other
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQ
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MQRankSum
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FS
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DP
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InbreedingCoeff
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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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Other
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East Asian
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African
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allele num: 10080
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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QD
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GenotypeDepth
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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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num of homozygotes: 0

Other
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African
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

African
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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allele count: 1
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European (Finnish)
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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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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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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Latino
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East Asian
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FS
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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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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allele num: 10984
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South Asian
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European (Non-Finnish)
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Other
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African
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East Asian
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European (Finnish)
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MQ
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 62472
num of homozygotes: 0

East Asian
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South Asian
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Latino
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Other
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European (Finnish)
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African
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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SIO_000300: 8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

DP
type: SiteQuality
SIO_000300: 1.43117e6

GenotypeDepth
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 894
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11545
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3537
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5056
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2927
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8633
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5218
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.199040767386091e-3
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.511128019783147e-5
allele num: 10514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62813415825464e-5
allele num: 61420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.420418e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

GenotypeDepth
all individuals: 338
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1714
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3537
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5056
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 678
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8633
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.734913793103448e-5
allele num: 14848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.420418e6

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 9.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

GenotypeDepth
all individuals: 315
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2054
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 459
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 8668
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 713
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5068
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5224
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7493
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.141068692335279e-4
allele num: 61346
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.745817593092283e-5
allele num: 14824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.479e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.41703e6

QD
type: SiteQuality
SIO_000300: 1.332e1

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.408e0