16-10989565-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989565
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989565
    reference: chr 16
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.239G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.239G>C
  hgvsp: ENSP00000371257.5:p.Arg80Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.354G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.239G>C
  hgvsp: ENSP00000459829.1:p.Arg80Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.167G>C
  hgvsp: ENSP00000459608.1:p.Arg56Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.360G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.239G>C
  hgvsp: ENSP00000316328.8:p.Arg80Thr
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg80Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

16-10989572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989572
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989572
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.246G>A
  hgvsp: ENST00000324288.8:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.367G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.246G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.246G>A
  hgvsp: ENST00000381835.5:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.246G>A
  hgvsp: ENST00000571186.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.174G>A
  hgvsp: ENST00000576601.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.361G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu82Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

16-10989584-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989584
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989584
    reference: chr 16
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.186A>G
  hgvsp: ENST00000576601.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.379A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.258A>G
  hgvsp: ENST00000381835.5:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.258A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.258A>G
  hgvsp: ENST00000571186.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.373A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.258A>G
  hgvsp: ENST00000324288.8:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu86Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

16-10989598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989598
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989598
    reference: chr 16
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.272C>T
  hgvsp: ENSP00000371257.5:p.Thr91Ile
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.272C>T
  hgvsp: ENSP00000316328.8:p.Thr91Ile
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.393C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.387C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.272C>T
  hgvsp: ENSP00000459829.1:p.Thr91Ile
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.200C>T
  hgvsp: ENSP00000459608.1:p.Thr67Ile
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.272C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9335
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36568
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr91Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

16-10989602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989602
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989602
    reference: chr 16
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.204G>A
  hgvsp: ENST00000576601.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.276G>A
  hgvsp: ENST00000571186.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.276G>A
  hgvsp: ENST00000381835.5:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.276G>A
  hgvsp: ENST00000324288.8:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.276G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.397G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.391G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg92Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

16-10989612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989612
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989612
    reference: chr 16
allele count: 59
allele frequency: 4.867183633063851e-4
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.286G>A
  hgvsp: ENSP00000371257.5:p.Ala96Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.401G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.286G>A
  hgvsp: ENSP00000459829.1:p.Ala96Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.286G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.286G>A
  hgvsp: ENSP00000316328.8:p.Ala96Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.214G>A
  hgvsp: ENSP00000459608.1:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.407G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21478
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9381
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala96Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

16-10989613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989613
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989613
    reference: chr 16
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.287C>T
  hgvsp: ENSP00000371257.5:p.Ala96Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.287C>T
  hgvsp: ENSP00000459829.1:p.Ala96Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.408C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.287C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.215C>T
  hgvsp: ENSP00000459608.1:p.Ala72Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.287C>T
  hgvsp: ENSP00000316328.8:p.Ala96Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.402C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala96Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

16-10989617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989617
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989617
    reference: chr 16
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.291T>C
  hgvsp: ENST00000571186.1:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.406T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.291T>C
  hgvsp: ENST00000324288.8:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.291T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.412T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.291T>C
  hgvsp: ENST00000381835.5:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.219T>C
  hgvsp: ENST00000576601.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn97Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

16-10989620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989620
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989620
    reference: chr 16
allele count: 9
allele frequency: 7.431383558476732e-5
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.294C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.222C>T
  hgvsp: ENST00000576601.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.415C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.294C>T
  hgvsp: ENST00000324288.8:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.294C>T
  hgvsp: ENST00000571186.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.294C>T
  hgvsp: ENST00000381835.5:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.409C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
hgvs: c.294C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-10989621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989621
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989621
    reference: chr 16
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295G>A
  hgvsp: ENSP00000316328.8:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295G>A
  hgvsp: ENSP00000459829.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295G>A
  hgvsp: ENSP00000371257.5:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223G>A
  hgvsp: ENSP00000459608.1:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala99Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

16-10989627-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989627
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989627
    reference: chr 16
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+6G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+6G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+6G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+6G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+6G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+6G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+6G>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.295+6G>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/16-10989631-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989631
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989631
    reference: chr 16
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+10C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+10C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+10C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+10C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+10C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+10C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+10C>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/16-10989633-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989633
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989633
    reference: chr 16
allele count: 2
allele frequency: 1.659310390601666e-5
allele num: 120532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+12C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+12C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+12C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+12C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+12C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+12C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+12C>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

16-10989633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989633
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989633
    reference: chr 16
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+12C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+12C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+12C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+12C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+12C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+12C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+12C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21182
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

16-10989638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989638
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989638
    reference: chr 16
allele count: 1
allele frequency: 8.317530026283395e-6
allele num: 120228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+17G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+17G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+17G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+17G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+17G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+17G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+17G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-10989639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989639
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989639
    reference: chr 16
allele count: 4
allele frequency: 3.327288758754929e-5
allele num: 120218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+18C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+18C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+18C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+18C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+18C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+18C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+18C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

16-10989642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989642
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989642
    reference: chr 16
allele count: 7
allele frequency: 5.830126763613346e-5
allele num: 120066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+21A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+21A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+21A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+21A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+21A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+21A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+21A>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14841
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20394
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-10989643-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989643
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989643
    reference: chr 16
allele count: 2
allele frequency: 1.666416704161042e-5
allele num: 120018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+22G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+22G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+22G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+22G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+22G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+22G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+22G>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9312
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

16-10989648-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989648
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989648
    reference: chr 16
allele count: 3
allele frequency: 2.505763255487622e-5
allele num: 119724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+27G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+27G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+27G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+27G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+27G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+27G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+27G>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18589
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

16-10989651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989651
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989651
    reference: chr 16
allele count: 10
allele frequency: 8.367220576668842e-5
allele num: 119514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+30C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+30C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+30C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+30C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+30C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+30C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+30C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-10989652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989652
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989652
    reference: chr 16
allele count: 1
allele frequency: 8.364281173675934e-6
allele num: 119556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+31A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+31A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+31A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+31A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+31A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+31A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+31A>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9310
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

16-10989664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989664
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989664
    reference: chr 16
allele count: 2
allele frequency: 1.686369078736572e-5
allele num: 118598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+43G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+43G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+43G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+43G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+43G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+43G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+43G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

16-10989666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989666
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989666
    reference: chr 16
allele count: 1
allele frequency: 8.483203257550051e-6
allele num: 117880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+45G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+45G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+45G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+45G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+45G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+45G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+45G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/16-10989669-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10989669
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10989669
    reference: chr 16
allele count: 1
allele frequency: 8.506728822498597e-6
allele num: 117554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.295+48C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.295+48C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.295+48C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.295+48C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.223+48C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.410+48C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.416+48C>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

16-10992477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992477
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992477
    reference: chr 16
allele count: 1
allele frequency: 1.627339300244101e-5
allele num: 61450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-50G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-50G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-50G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-50G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-50G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-50G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-50G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23594
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-10992486-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992486
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992486
    reference: chr 16
allele count: 2
allele frequency: 3.213677411061477e-5
allele num: 62234
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-41T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-41T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-41T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-41T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-41T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-41T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-41T>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-10992489-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992489
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992489
    reference: chr 16
allele count: 2
allele frequency: 3.195398625978591e-5
allele num: 62590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-38A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-38A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-38A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-38A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-38A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-38A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-38A>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15093
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

16-10992489-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992489
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992489
    reference: chr 16
allele count: 2
allele frequency: 3.195398625978591e-5
allele num: 62590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-38A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-38A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-38A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-38A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-38A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-38A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-38A>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15093
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24251
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-10992490-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992490
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992490
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 62700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-37C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-37C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-37C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-37C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-37C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-37C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-37C>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24313
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-10992490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992490
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992490
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 62700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-37C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-37C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-37C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-37C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-37C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-37C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-37C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24313
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4870
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/16-10992491-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992491
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992491
    reference: chr 16
allele count: 1
allele frequency: 1.59169770477191e-5
allele num: 62826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-36C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-36C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-36C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-36C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-36C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-36C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-36C>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

16-10992494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992494
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992494
    reference: chr 16
allele count: 1
allele frequency: 1.576889113157563e-5
allele num: 63416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-33G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-33G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-33G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-33G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-33G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-33G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-33G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

16-10992500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992500
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992500
    reference: chr 16
allele count: 9
allele frequency: 1.383380983122752e-4
allele num: 65058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-27T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-27T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-27T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-27T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-27T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-27T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-27T>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25043
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-10992504-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992504
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992504
    reference: chr 16
allele count: 46
allele frequency: 6.89717215941464e-4
allele num: 66694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-23T>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-23T>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-23T>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-23T>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-23T>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-23T>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-23T>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24863
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12619
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

16-10992506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992506
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992506
    reference: chr 16
allele count: 7
allele frequency: 1.037990450487856e-4
allele num: 67438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-21C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-21C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-21C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-21C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-21C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-21C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-21C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24547
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8398
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

16-10992507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992507
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992507
    reference: chr 16
allele count: 196
allele frequency: 2.859310264340316e-3
allele num: 68548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-20G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-20G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-20G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-20G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-20G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-20G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-20G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11677
  bin: 1.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24278
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

16-10992510-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992510
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992510
    reference: chr 16
allele count: 1
allele frequency: 1.413507477454556e-5
allele num: 70746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-17T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-17T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-17T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-17T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-17T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-17T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-17T>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-10992514-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992514
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992514
    reference: chr 16
allele count: 3
allele frequency: 4.103405826836274e-5
allele num: 73110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.296-13C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.296-13C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.296-13C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.296-13C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.417-13C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.224-13C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.411-13C>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23841
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

16-10992528-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992528
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992528
    reference: chr 16
allele count: 1
allele frequency: 1.191781474948753e-5
allele num: 83908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.297G>A
  hgvsp: ENST00000381835.5:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.297G>A
  hgvsp: ENST00000571186.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.297G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.418G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.412G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.225G>A
  hgvsp: ENST00000576601.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.297G>A
  hgvsp: ENST00000324288.8:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
hgvs: c.297G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

16-10992531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992531
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992531
    reference: chr 16
allele count: 3
allele frequency: 3.48691245525129e-5
allele num: 86036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.300A>G
  hgvsp: ENST00000571186.1:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.300A>G
  hgvsp: ENST00000324288.8:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.421A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.228A>G
  hgvsp: ENST00000576601.1:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.300A>G
  hgvsp: ENST00000381835.5:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.300A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.415A>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22031
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu100Glu
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: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

16-10992537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992537
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992537
    reference: chr 16
allele count: 1
allele frequency: 1.124960626378077e-5
allele num: 88892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.421C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.306C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.427C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.306C>T
  hgvsp: ENST00000381835.5:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.234C>T
  hgvsp: ENST00000576601.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.306C>T
  hgvsp: ENST00000571186.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.306C>T
  hgvsp: ENST00000324288.8:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp102Asp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-10992538-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992538
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992538
    reference: chr 16
allele count: 5
allele frequency: 5.593216546971832e-5
allele num: 89394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.235C>A
  hgvsp: ENSP00000459608.1:p.Gln79Lys
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.307C>A
  hgvsp: ENSP00000459829.1:p.Gln103Lys
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.307C>A
  hgvsp: ENSP00000371257.5:p.Gln103Lys
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.428C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.307C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.422C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.307C>A
  hgvsp: ENSP00000316328.8:p.Gln103Lys
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15601
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23297
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln103Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-10992539-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992539
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992539
    reference: chr 16
allele count: 1
allele frequency: 1.112817431172242e-5
allele num: 89862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.308A>T
  hgvsp: ENSP00000371257.5:p.Gln103Leu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.236A>T
  hgvsp: ENSP00000459608.1:p.Gln79Leu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.308A>T
  hgvsp: ENSP00000316328.8:p.Gln103Leu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.308A>T
  hgvsp: ENSP00000459829.1:p.Gln103Leu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.308A>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.429A>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.423A>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln103Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-10992542-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992542
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992542
    reference: chr 16
allele count: 1
allele frequency: 1.097333479644464e-5
allele num: 91130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.311A>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.311A>T
  hgvsp: ENSP00000316328.8:p.Tyr104Phe
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.311A>T
  hgvsp: ENSP00000371257.5:p.Tyr104Phe
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.426A>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.311A>T
  hgvsp: ENSP00000459829.1:p.Tyr104Phe
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.239A>T
  hgvsp: ENSP00000459608.1:p.Tyr80Phe
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.432A>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr104Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

16-10992557-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992557
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992557
    reference: chr 16
allele count: 8
allele frequency: 8.352648833761407e-5
allele num: 95778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.441C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.326C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.326C>G
  hgvsp: ENSP00000316328.8:p.Ser109Cys
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.326C>G
  hgvsp: ENSP00000459829.1:p.Ser109Cys
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.447C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.326C>G
  hgvsp: ENSP00000371257.5:p.Ser109Cys
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.254C>G
  hgvsp: ENSP00000459608.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser109Cys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-10992562-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992562
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992562
    reference: chr 16
allele count: 2
allele frequency: 2.062280882656218e-5
allele num: 96980
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.331C>G
  hgvsp: ENSP00000316328.8:p.Leu111Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.259C>G
  hgvsp: ENSP00000459608.1:p.Leu87Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.452C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.331C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.331C>G
  hgvsp: ENSP00000459829.1:p.Leu111Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.331C>G
  hgvsp: ENSP00000371257.5:p.Leu111Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.446C>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu111Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

16-10992577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992577
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992577
    reference: chr 16
allele count: 1
allele frequency: 1.001361852118882e-5
allele num: 99864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.346A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.461A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.346A>G
  hgvsp: ENSP00000371257.5:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.467A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.346A>G
  hgvsp: ENSP00000459829.1:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.346A>G
  hgvsp: ENSP00000316328.8:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.274A>G
  hgvsp: ENSP00000459608.1:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys116Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

16-10992582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992582
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992582
    reference: chr 16
allele count: 1
allele frequency: 9.960159362549801e-6
allele num: 100400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.351C>T
  hgvsp: ENST00000381835.5:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.351C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.351C>T
  hgvsp: ENST00000571186.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.351C>T
  hgvsp: ENST00000324288.8:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.466C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.279C>T
  hgvsp: ENST00000576601.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.472C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19843
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp117Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-10992583-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992583
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992583
    reference: chr 16
allele count: 1
allele frequency: 9.952625502607588e-6
allele num: 100476
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.352A>C
  hgvsp: ENSP00000316328.8:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.473A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.467A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.352A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.352A>C
  hgvsp: ENSP00000371257.5:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.352A>C
  hgvsp: ENSP00000459829.1:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.280A>C
  hgvsp: ENSP00000459608.1:p.Ile94Leu
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile118Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

16-10992583-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992583
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992583
    reference: chr 16
allele count: 5
allele frequency: 4.976312751303794e-5
allele num: 100476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.473A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.467A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.280A>G
  hgvsp: ENSP00000459608.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.352A>G
  hgvsp: ENSP00000316328.8:p.Ile118Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.352A>G
  hgvsp: ENSP00000459829.1:p.Ile118Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.352A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.352A>G
  hgvsp: ENSP00000371257.5:p.Ile118Val
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile118Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

16-10992595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992595
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992595
    reference: chr 16
allele count: 1
allele frequency: 9.874592673052236e-6
allele num: 101270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.358+6T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.286+6T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.358+6T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.358+6T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.358+6T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.479+6T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.473+6T>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13278
  bin: 2.25e1
  variant carriers: 0
hgvs: c.358+6T>C
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

16-10992600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992600
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992600
    reference: chr 16
allele count: 324
allele frequency: 3.195770535784739e-3
allele num: 101384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.358+11G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.286+11G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.479+11G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.473+11G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.358+11G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.358+11G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.358+11G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16874
  bin: 2.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 2.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 1.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 1.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.25e1
  variant carriers: 2
num of homozygotes: 3
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

16-10992601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992601
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992601
    reference: chr 16
allele count: 2
allele frequency: 1.968930280178779e-5
allele num: 101578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.358+12G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.358+12G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.358+12G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.358+12G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.286+12G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.473+12G>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.479+12G>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16939
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8892
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

16-10992620-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992620
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992620
    reference: chr 16
allele count: 1
allele frequency: 9.6237128284092e-6
allele num: 103910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.479+31C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.286+31C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.473+31C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.358+31C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.358+31C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.358+31C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.358+31C>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

16-10992622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992622
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992622
    reference: chr 16
allele count: 2
allele frequency: 1.917251428352314e-5
allele num: 104316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.358+33C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.286+33C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.358+33C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.479+33C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.358+33C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.358+33C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.473+33C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8906
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/16-10992629-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992629
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992629
    reference: chr 16
allele count: 1
allele frequency: 9.456980197083467e-6
allele num: 105742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.358+40C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.286+40C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.358+40C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.358+40C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.473+40C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.358+40C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.479+40C>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

16-10992629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992629
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992629
    reference: chr 16
allele count: 3
allele frequency: 2.83709405912504e-5
allele num: 105742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.358+40C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.473+40C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.358+40C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.358+40C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.358+40C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.479+40C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.286+40C>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18426
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7756
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/16-10992729-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992729
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992729
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-53A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-53A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-53A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-50A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-53A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-53A>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-53A>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-10992730-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992730
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992730
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-52C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-52C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-52C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-52C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-52C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-52C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-49C>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

16-10992747-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992747
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992747
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-35T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-35T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-35T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-32T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-35T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-35T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-35T>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

16-10992748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992748
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992748
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-34T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-34T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-34T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-34T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-34T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-34T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-31T>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

16-10992749-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992749
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992749
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-33G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-33G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-33G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-33G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-30G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-33G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-33G>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

16-10992756-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992756
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992756
    reference: chr 16
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-26T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-23T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-26T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-26T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-26T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-26T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-26T>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14682
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

16-10992759-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992759
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992759
    reference: chr 16
allele count: 9
allele frequency: 7.412776331828814e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-20G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-23G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-23G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-23G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-23G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-23G>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-23G>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19445
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8480
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS

16-10992759-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992759
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992759
    reference: chr 16
allele count: 40
allele frequency: 3.294567258590584e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-23G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-23G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-20G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-23G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-23G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-23G>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-23G>T
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14683
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24371
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-10992763-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992763
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992763
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-19C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-16C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-19C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-19C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-19C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-19C>A
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-19C>A
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

16-10992767-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992767
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992767
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-15T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-15T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-15T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-15T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-12T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-15T>C
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-15T>C
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

16-10992774-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992774
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992774
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.359-8C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.287-8C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.359-8C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.359-8C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.359-8C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.480-8C>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.474-5C>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: c.359-8C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-10992786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992786
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992786
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.363C>T
  hgvsp: ENST00000381835.5:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.291C>T
  hgvsp: ENST00000576601.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.484C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.363C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.481C>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.363C>T
  hgvsp: ENST00000571186.1:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.363C>T
  hgvsp: ENST00000324288.8:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His121His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

16-10992787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992787
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992787
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.485A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.364A>G
  hgvsp: ENSP00000316328.8:p.Ile122Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.364A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.292A>G
  hgvsp: ENSP00000459608.1:p.Ile98Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.482A>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.364A>G
  hgvsp: ENSP00000371257.5:p.Ile122Val
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.364A>G
  hgvsp: ENSP00000459829.1:p.Ile122Val
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile122Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

16-10992788-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992788
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992788
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.483T>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.293T>G
  hgvsp: ENSP00000459608.1:p.Ile98Arg
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.365T>G
  hgvsp: ENSP00000371257.5:p.Ile122Arg
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.486T>G
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.365T>G
  hgvsp: ENSP00000459829.1:p.Ile122Arg
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.365T>G
  hgvsp: ENSP00000316328.8:p.Ile122Arg
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.365T>G
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile122Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

16-10992789-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10992789
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 10992789
    reference: chr 16
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000537380
  gene symbol: CIITA
  hgvsc: ENST00000537380.1:n.366A>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459829
  ensembl transcript: ENST00000571186
  gene symbol: CIITA
  hgvsc: ENST00000571186.1:c.366A>T
  hgvsp: ENST00000571186.1:c.366A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000316328
  ensembl transcript: ENST00000324288
  gene symbol: CIITA
  hgvsc: ENST00000324288.8:c.366A>T
  hgvsp: ENST00000324288.8:c.366A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000570546
  gene symbol: CIITA
  hgvsc: ENST00000570546.1:n.487A>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179583
  ensembl transcript: ENST00000573309
  gene symbol: CIITA
  hgvsc: ENST00000573309.1:n.484A>T
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000459608
  ensembl transcript: ENST00000576601
  gene symbol: CIITA
  hgvsc: ENST00000576601.1:c.294A>T
  hgvsp: ENST00000576601.1:c.294A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179583
  ensembl protein: ENSP00000371257
  ensembl transcript: ENST00000381835
  gene symbol: CIITA
  hgvsc: ENST00000381835.5:c.366A>T
  hgvsp: ENST00000381835.5:c.366A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile122Ile
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 9333
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1369
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36663
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.351e1

DP
type: SiteQuality
SIO_000300: 2.113487e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.576e0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36649
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 2.113423e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.061e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.142e0

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

GenotypeQuality
all individuals: 2056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9333
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
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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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ReadPosRankSum
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SIO_000300: 1.46e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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BaseQRankSum
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SIO_000300: 2.47e0

MQRankSum
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SIO_000300: 9.6e-1

MQ
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FS
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DP
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ClippingRankSum
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QD
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SIO_000300: 1.482e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6608
num of homozygotes: 0

South Asian
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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: 10394
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
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Other
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allele frequency: 0.0e0
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 2.112571e6

FS
type: SiteQuality
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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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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Other
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allele frequency: 0.0e0
allele num: 906
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African
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allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
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Latino
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allele frequency: 0.0e0
allele num: 11564
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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
allele num: 6602
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
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East Asian
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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SIO_000300: 2.112008e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

South Asian
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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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African
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allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
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allele count: 56
allele frequency: 8.398824164616953e-4
allele num: 66676
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.516530178950561e-4
allele num: 6594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.17e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

MQ
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SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.111927e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.35e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 66668
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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Latino
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allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

African
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.542e0

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.921e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 2.110083e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.939e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
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Latino
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allele frequency: 0.0e0
allele num: 11544
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
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South Asian
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East Asian
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Other
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VQSLOD
type: SiteQuality
SIO_000300: -2.225e0

ReadPosRankSum
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.842e1

MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.35070236522992e-4
allele num: 66632
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African
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allele frequency: 0.0e0
allele num: 10350
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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South Asian
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
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Latino
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East Asian
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele count: 0
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Other
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South Asian
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10314
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Other
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East Asian
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South Asian
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Latino
type: Population
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allele frequency: 8.739730816290858e-5
allele num: 11442
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MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.733e1

VQSLOD
type: SiteQuality
SIO_000300: -1.284e0

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9324
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 283
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.221896383186706e-4
allele num: 16368
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.086877e6

QD
type: SiteQuality
SIO_000300: 1.309e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.424e0

FS
type: SiteQuality
SIO_000300: 1.738e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 1978
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9324
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 2.086877e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

FS
type: SiteQuality
SIO_000300: 1.738e0

QD
type: SiteQuality
SIO_000300: 1.309e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7230
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.013e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

QD
type: SiteQuality
SIO_000300: 1.997e1

FS
type: SiteQuality
SIO_000300: 5.477e0

MQ
type: SiteQuality
SIO_000300: 5.658e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.696e0

DP
type: SiteQuality
SIO_000300: 2.070934e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 646
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9320
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.450079627587897e-4
allele num: 16326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.853e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.071235e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeQuality
all individuals: 31474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9322
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 7
allele frequency: 6.837272904864231e-4
allele num: 10238
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 2.054496e6

FS
type: SiteQuality
SIO_000300: 1.702e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.378e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

GenotypeQuality
all individuals: 2615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.225940909648155e-4
allele num: 16314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.203e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 2.054479e6

GenotypeQuality
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9312
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.842978252856616e-4
allele num: 16278
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

DP
type: SiteQuality
SIO_000300: 2.001814e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.169e0

QD
type: SiteQuality
SIO_000300: 1.506e1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

GenotypeQuality
all individuals: 1166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9313
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.365581282432555e-4
allele num: 65906
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: 16256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.538461538461539e-4
allele num: 6500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.969311e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.077e0

FS
type: SiteQuality
SIO_000300: 1.771e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
all individuals: 651
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 747
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5263
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516760200212346e-5
allele num: 65930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 2.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

QD
type: SiteQuality
SIO_000300: 2.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.498e0

DP
type: SiteQuality
SIO_000300: 1.9671e6

GenotypeQuality
all individuals: 175
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9306
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1771
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5427
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4424
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.982553528945282e-4
allele num: 10088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 6.915e0

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.497e0

QD
type: SiteQuality
SIO_000300: 2.896e1

DP
type: SiteQuality
SIO_000300: 1.876331e6

GenotypeQuality
all individuals: 4611
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535249324490297e-5
allele num: 65136
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: -3.32e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.729e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 3.358e0

DP
type: SiteQuality
SIO_000300: 1.860959e6

GenotypeQuality
all individuals: 541
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5579
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540025256414205e-5
allele num: 64934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
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: 11100
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.855177e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.434e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 601
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.563966218329684e-4
allele num: 6394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.795e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.259003e6

QD
type: SiteQuality
SIO_000300: 1.39e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 220
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variant carriers: 0

GenotypeQuality
all individuals: 8877
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.08546744831842e-4
allele num: 6482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.059e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.277559e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

QD
type: SiteQuality
SIO_000300: 1.115e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

GenotypeQuality
all individuals: 21300
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 356
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variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.798446016467587e-5
allele num: 34492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.287129e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.284e1

FS
type: SiteQuality
SIO_000300: 5.99e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.071253071253071e-4
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
SIO_000300: 1.287129e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.284e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.290491e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.142e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.290491e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.885170225043277e-5
allele num: 34660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

Other
type: Population
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allele num: 506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 3.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.294086e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 357
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.857306131778959e-5
allele num: 34998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.091e0

FS
type: SiteQuality
SIO_000300: 2.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.474e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 1.305079e6

QD
type: SiteQuality
SIO_000300: 1.233e1

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 8883
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.218893881400122e-4
allele num: 36054
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.853881278538813e-4
allele num: 3504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.293e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

DP
type: SiteQuality
SIO_000300: 1.333808e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 45

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 281
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GenotypeQuality
all individuals: 902
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4798
num of homozygotes: 0

South Asian
type: Population
allele count: 45
allele frequency: 4.048218783735157e-3
allele num: 11116
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6826
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.953125e-3
allele num: 512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

DP
type: SiteQuality
SIO_000300: 1.363748e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.186e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.12e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

GenotypeQuality
all individuals: 4312
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 280
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2050
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 328
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variant carriers: 1

GenotypeQuality
all individuals: 4603
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.332764687066852e-4
allele num: 37516
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.794365691727974e-4
allele num: 11146
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

FS
type: SiteQuality
SIO_000300: 1.914e0

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.194e1

DP
type: SiteQuality
SIO_000300: 1.378445e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
all individuals: 24731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
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variant carriers: 3

GenotypeQuality
all individuals: 4197
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variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
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variant carriers: 1

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 9028
bin: 9.75e1
variant carriers: 195

GenotypeQuality
all individuals: 8988
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 8.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.067615658362989e-3
allele num: 2810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.86286859433152e-4
allele num: 6986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 168
allele frequency: 4.397445293686525e-3
allele num: 38204
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 4.138644593895499e-3
allele num: 3866
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.893939393939394e-3
allele num: 528
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 5.348546978070957e-4
allele num: 11218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.393254e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 24608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
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variant carriers: 0

GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 416
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variant carriers: 0

GenotypeQuality
all individuals: 336
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variant carriers: 0

GenotypeQuality
all individuals: 3949
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variant carriers: 0

GenotypeQuality
all individuals: 348
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GenotypeQuality
all individuals: 8864
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.819897689186806e-5
allele num: 11338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5154
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 1.416778e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
SIO_000300: 1.533e1

VQSLOD
type: SiteQuality
SIO_000300: -1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.25e-1

GenotypeQuality
all individuals: 8864
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1027
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GenotypeQuality
all individuals: 13028
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.60778859527121e-4
allele num: 11504
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40948
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.449339e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 2.672e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19303
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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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variant carriers: 1

GenotypeQuality
all individuals: 373
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variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.240694789081886e-4
allele num: 8060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.565118e6

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

FS
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 380
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GenotypeQuality
all individuals: 8874
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 3
allele frequency: 3.670173721556154e-4
allele num: 8174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.581713e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.0562e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

QD
type: SiteQuality
SIO_000300: 1.126e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -9.506e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22722
bin: 6.25e1
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GenotypeQuality
all individuals: 380
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.848061528802385e-5
allele num: 12742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 8.972e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.608416e6

VQSLOD
type: SiteQuality
SIO_000300: -1.762e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 7.13e0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 9.863100169645322e-5
allele num: 50694
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3968
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.331e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 2.364e0

InbreedingCoeff
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SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.612509e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 12832
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 6420
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European (Finnish)
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allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50980
num of homozygotes: 0

African
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allele frequency: 1.191043353978085e-4
allele num: 8396
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.666e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.822e0

BaseQRankSum
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SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.873e1

DP
type: SiteQuality
SIO_000300: 1.615513e6

QD
type: SiteQuality
SIO_000300: 6.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.933787128712871e-5
allele num: 51712
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4082
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12960
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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allele frequency: 0.0e0
allele num: 6642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.384e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

DP
type: SiteQuality
SIO_000300: 1.626433e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

GenotypeQuality
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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: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.471724493174878e-4
allele num: 54358
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4438
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7160
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

FS
type: SiteQuality
SIO_000300: 1.673e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 1.664412e6

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.505e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.257336343115124e-4
allele num: 8860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4556
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55028
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13580
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.807e1

FS
type: SiteQuality
SIO_000300: 1.059e0

DP
type: SiteQuality
SIO_000300: 1.668732e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4842
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 736
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: 0
allele frequency: 0.0e0
allele num: 13966
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56536
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.297690111601349e-4
allele num: 7706
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

BaseQRankSum
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FS
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QD
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.760687372350165e-5
allele num: 56796
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 744
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56838
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4904
num of homozygotes: 0

Other
type: Population
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East Asian
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South Asian
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allele frequency: 7.10126402499645e-5
allele num: 14082
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African
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.665061e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 14082
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.278158978148422e-5
allele num: 56838
num of homozygotes: 0

Latino
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African
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allele frequency: 1.104240282685512e-4
allele num: 9056
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East Asian
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allele frequency: 1.413227812323346e-4
allele num: 7076
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European (Finnish)
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allele num: 4904
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.665061e6

MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.748863238894718e-5
allele num: 57180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.655459e6

FS
type: SiteQuality
SIO_000300: 1.2044e1

MQ
type: SiteQuality
SIO_000300: 5.509e1

QD
type: SiteQuality
SIO_000300: 1.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.157e0

VQSLOD
type: SiteQuality
SIO_000300: -2.503e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 9186
bin: 9.75e1
variant carriers: 316

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

European (Finnish)
type: Population
allele count: 83
allele frequency: 1.645519429024584e-2
allele num: 5044
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 78
allele frequency: 1.363970202497115e-3
allele num: 57186
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 9.333333333333334e-3
allele num: 750
num of homozygotes: 1

South Asian
type: Population
allele count: 5
allele frequency: 3.506311360448808e-4
allele num: 14260
num of homozygotes: 0

East Asian
type: Population
allele count: 151
allele frequency: 2.128559345926135e-2
allele num: 7094
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.655391e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

QD
type: SiteQuality
SIO_000300: 1.345e1

VQSLOD
type: SiteQuality
SIO_000300: 6.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1437
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14284
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.523340903356043e-4
allele num: 7926
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 1.258e0

DP
type: SiteQuality
SIO_000300: 1.655521e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.674e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.017e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 829
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variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.712387410527758e-5
allele num: 58398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.719e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.158e1

FS
type: SiteQuality
SIO_000300: 1.065e0

DP
type: SiteQuality
SIO_000300: 1.684665e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3381
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variant carriers: 0

GenotypeQuality
all individuals: 1948
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.415767181308922e-5
allele num: 58552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.691641e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.538e0

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 1295
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 17835
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1069
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GenotypeQuality
all individuals: 483
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.704210244033253e-5
allele num: 14916
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

QD
type: SiteQuality
SIO_000300: 8.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

DP
type: SiteQuality
SIO_000300: 1.720949e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 4.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 417
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14916
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59140
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.506311360448808e-4
allele num: 8556
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 1.720949e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.909e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.603277e6

FS
type: SiteQuality
SIO_000300: 8.88e-1

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

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1256
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e0

DP
type: SiteQuality
SIO_000300: 2.603209e6

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 9.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Other
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European (Non-Finnish)
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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

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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QD
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ClippingRankSum
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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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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Latino
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African
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Other
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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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East Asian
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DP
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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South Asian
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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allele num: 11578
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African
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South Asian
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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African
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Latino
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South Asian
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European (Finnish)
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QD
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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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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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Other
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East Asian
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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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European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.654e0

VQSLOD
type: SiteQuality
SIO_000300: -2.243e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e0

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 2.600794e6

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

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

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

GenotypeQuality
all individuals: 3090
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 24395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1945
bin: 9.25e1
variant carriers: 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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.262e1

FS
type: SiteQuality
SIO_000300: 8.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.581e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

DP
type: SiteQuality
SIO_000300: 2.600774e6