9-37014983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37014983
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37014983
    reference: chr 9
allele count: 6
allele frequency: 5.010354733115105e-5
allele num: 119752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5650C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.86+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.410+11C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.86+11C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20340
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/9-37014986-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37014986
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37014986
    reference: chr 9
allele count: 1
allele frequency: 8.332916687498959e-6
allele num: 120006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.86+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5647G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.86+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.410+8G>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.410+8G>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

9-37015010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015010
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015010
    reference: chr 9
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.394G>A
  hgvsp: ENSP00000429291.1:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.394G>A
  hgvsp: ENSP00000367083.2:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.394G>A
  hgvsp: ENSP00000367078.2:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.70G>A
  hgvsp: ENSP00000429197.1:p.Val24Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.394G>A
  hgvsp: ENSP00000429637.1:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.70G>A
  hgvsp: ENSP00000429359.1:p.Val24Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.394G>A
  hgvsp: ENSP00000412188.1:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.394G>A
  hgvsp: ENSP00000350844.4:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.394G>A
  hgvsp: ENSP00000367084.2:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.394G>A
  hgvsp: ENSP00000367071.2:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5623G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.394G>A
  hgvsp: ENSP00000431038.1:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.394G>A
  hgvsp: ENSP00000430773.1:p.Val132Ile
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val132Ile
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

9-37015017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015017
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015017
    reference: chr 9
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.387G>A
  hgvsp: ENST00000523241.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.387G>A
  hgvsp: ENST00000377840.2:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.387G>A
  hgvsp: ENST00000523493.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.387G>A
  hgvsp: ENST00000358127.4:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.387G>A
  hgvsp: ENST00000377852.2:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.63G>A
  hgvsp: ENST00000523145.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.387G>A
  hgvsp: ENST00000377847.2:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.63G>A
  hgvsp: ENST00000522003.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.387G>A
  hgvsp: ENST00000520154.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5616G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.387G>A
  hgvsp: ENST00000377853.2:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.387G>A
  hgvsp: ENST00000520281.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.387G>A
  hgvsp: ENST00000414447.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20339
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val129Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

9-37015019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015019
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015019
    reference: chr 9
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5614G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.385G>A
  hgvsp: ENSP00000429291.1:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.61G>A
  hgvsp: ENSP00000429359.1:p.Val21Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.385G>A
  hgvsp: ENSP00000367071.2:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.385G>A
  hgvsp: ENSP00000430773.1:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.385G>A
  hgvsp: ENSP00000412188.1:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.61G>A
  hgvsp: ENSP00000429197.1:p.Val21Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.385G>A
  hgvsp: ENSP00000350844.4:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.385G>A
  hgvsp: ENSP00000431038.1:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.385G>A
  hgvsp: ENSP00000429637.1:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.385G>A
  hgvsp: ENSP00000367078.2:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.385G>A
  hgvsp: ENSP00000367084.2:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.385G>A
  hgvsp: ENSP00000367083.2:p.Val129Met
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val129Met
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-37015020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015020
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015020
    reference: chr 9
allele count: 6
allele frequency: 4.944946264917255e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5613C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.384C>T
  hgvsp: ENST00000377840.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.384C>T
  hgvsp: ENST00000377852.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.384C>T
  hgvsp: ENST00000523493.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.384C>T
  hgvsp: ENST00000414447.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.384C>T
  hgvsp: ENST00000523241.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.60C>T
  hgvsp: ENST00000522003.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.60C>T
  hgvsp: ENST00000523145.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.384C>T
  hgvsp: ENST00000377853.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.384C>T
  hgvsp: ENST00000520281.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.384C>T
  hgvsp: ENST00000520154.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.384C>T
  hgvsp: ENST00000377847.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.384C>T
  hgvsp: ENST00000358127.4:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr128Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

9-37015026-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015026
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015026
    reference: chr 9
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.378T>C
  hgvsp: ENST00000523241.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.54T>C
  hgvsp: ENST00000523145.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.378T>C
  hgvsp: ENST00000358127.4:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.378T>C
  hgvsp: ENST00000377847.2:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.378T>C
  hgvsp: ENST00000377840.2:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.378T>C
  hgvsp: ENST00000414447.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.378T>C
  hgvsp: ENST00000523493.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5607T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.378T>C
  hgvsp: ENST00000377852.2:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.54T>C
  hgvsp: ENST00000522003.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.378T>C
  hgvsp: ENST00000520154.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.378T>C
  hgvsp: ENST00000377853.2:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.378T>C
  hgvsp: ENST00000520281.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn126Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

9-37015039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015039
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015039
    reference: chr 9
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.365G>A
  hgvsp: ENSP00000367071.2:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.365G>A
  hgvsp: ENSP00000429637.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.365G>A
  hgvsp: ENSP00000431038.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.365G>A
  hgvsp: ENSP00000367078.2:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.365G>A
  hgvsp: ENSP00000412188.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.365G>A
  hgvsp: ENSP00000429291.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.365G>A
  hgvsp: ENSP00000367083.2:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.41G>A
  hgvsp: ENSP00000429197.1:p.Arg14Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.41G>A
  hgvsp: ENSP00000429359.1:p.Arg14Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.365G>A
  hgvsp: ENSP00000430773.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5594G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.365G>A
  hgvsp: ENSP00000367084.2:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.365G>A
  hgvsp: ENSP00000350844.4:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20335
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg122Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

9-37015040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015040
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015040
    reference: chr 9
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.364C>T
  hgvsp: ENSP00000429637.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.364C>T
  hgvsp: ENSP00000367084.2:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.364C>T
  hgvsp: ENSP00000350844.4:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.364C>T
  hgvsp: ENSP00000412188.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.364C>T
  hgvsp: ENSP00000367083.2:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.364C>T
  hgvsp: ENSP00000367071.2:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.40C>T
  hgvsp: ENSP00000429197.1:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.364C>T
  hgvsp: ENSP00000367078.2:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5593C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.40C>T
  hgvsp: ENSP00000429359.1:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.364C>T
  hgvsp: ENSP00000431038.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.364C>T
  hgvsp: ENSP00000429291.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.364C>T
  hgvsp: ENSP00000430773.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20335
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg122Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

9-37015053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015053
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015053
    reference: chr 9
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.351G>A
  hgvsp: ENST00000358127.4:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.351G>A
  hgvsp: ENST00000377847.2:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.27G>A
  hgvsp: ENST00000522003.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.351G>A
  hgvsp: ENST00000377840.2:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.351G>A
  hgvsp: ENST00000414447.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5580G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.351G>A
  hgvsp: ENST00000377853.2:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.351G>A
  hgvsp: ENST00000523493.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.27G>A
  hgvsp: ENST00000523145.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.351G>A
  hgvsp: ENST00000523241.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.351G>A
  hgvsp: ENST00000377852.2:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.351G>A
  hgvsp: ENST00000520281.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.351G>A
  hgvsp: ENST00000520154.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg117Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

9-37015062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015062
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015062
    reference: chr 9
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.342C>T
  hgvsp: ENST00000377852.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.18C>T
  hgvsp: ENST00000522003.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.342C>T
  hgvsp: ENST00000377847.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.342C>T
  hgvsp: ENST00000520154.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.342C>T
  hgvsp: ENST00000414447.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.342C>T
  hgvsp: ENST00000377840.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.18C>T
  hgvsp: ENST00000523145.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.342C>T
  hgvsp: ENST00000523241.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.342C>T
  hgvsp: ENST00000377853.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.342C>T
  hgvsp: ENST00000523493.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.342C>T
  hgvsp: ENST00000358127.4:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.342C>T
  hgvsp: ENST00000520281.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5571C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile114Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

9-37015091-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015091
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015091
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.313C>A
  hgvsp: ENSP00000367084.2:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.313C>A
  hgvsp: ENSP00000429291.1:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.313C>A
  hgvsp: ENSP00000431038.1:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.313C>A
  hgvsp: ENSP00000367078.2:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.313C>A
  hgvsp: ENSP00000350844.4:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.313C>A
  hgvsp: ENSP00000367071.2:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.313C>A
  hgvsp: ENSP00000367083.2:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.313C>A
  hgvsp: ENSP00000412188.1:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.313C>A
  hgvsp: ENSP00000430773.1:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.313C>A
  hgvsp: ENSP00000429637.1:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5542C>A
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20334
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln105Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

9-37015092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015092
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015092
    reference: chr 9
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.312C>T
  hgvsp: ENST00000377853.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.312C>T
  hgvsp: ENST00000523493.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.312C>T
  hgvsp: ENST00000377852.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.312C>T
  hgvsp: ENST00000414447.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.312C>T
  hgvsp: ENST00000377840.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.312C>T
  hgvsp: ENST00000520281.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.312C>T
  hgvsp: ENST00000523241.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.312C>T
  hgvsp: ENST00000377847.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5541C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.312C>T
  hgvsp: ENST00000358127.4:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.312C>T
  hgvsp: ENST00000520154.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20335
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg104Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

9-37015149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015149
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015149
    reference: chr 9
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5484A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.255A>G
  hgvsp: ENST00000377853.2:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.255A>G
  hgvsp: ENST00000377840.2:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.255A>G
  hgvsp: ENST00000377847.2:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.255A>G
  hgvsp: ENST00000523493.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.255A>G
  hgvsp: ENST00000414447.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.255A>G
  hgvsp: ENST00000520154.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.255A>G
  hgvsp: ENST00000377852.2:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.255A>G
  hgvsp: ENST00000523241.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-70A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-70A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.255A>G
  hgvsp: ENST00000520281.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.255A>G
  hgvsp: ENST00000358127.4:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly85Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

9-37015155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015155
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015155
    reference: chr 9
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.249T>C
  hgvsp: ENST00000377852.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.249T>C
  hgvsp: ENST00000414447.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.249T>C
  hgvsp: ENST00000520281.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.249T>C
  hgvsp: ENST00000523493.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.249T>C
  hgvsp: ENST00000377847.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-76T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.249T>C
  hgvsp: ENST00000377853.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.249T>C
  hgvsp: ENST00000358127.4:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.249T>C
  hgvsp: ENST00000523241.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5478T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.249T>C
  hgvsp: ENST00000377840.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-76T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.249T>C
  hgvsp: ENST00000520154.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile83Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

9-37015160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015160
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015160
    reference: chr 9
allele count: 85
allele frequency: 7.001070751997365e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.244G>A
  hgvsp: ENSP00000367071.2:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.244G>A
  hgvsp: ENSP00000429637.1:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5473G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.244G>A
  hgvsp: ENSP00000430773.1:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.244G>A
  hgvsp: ENSP00000350844.4:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.244G>A
  hgvsp: ENSP00000367084.2:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.244G>A
  hgvsp: ENSP00000412188.1:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.244G>A
  hgvsp: ENSP00000429291.1:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.244G>A
  hgvsp: ENSP00000367078.2:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.244G>A
  hgvsp: ENSP00000367083.2:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.244G>A
  hgvsp: ENSP00000431038.1:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val82Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

9-37015209-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015209
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015209
    reference: chr 9
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5424T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.213-18T>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

9-37015214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015214
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015214
    reference: chr 9
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5419G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-23G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.213-23G>A
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20251
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

9-37015231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015231
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015231
    reference: chr 9
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5402T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.213-40T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-40T>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

9-37015234-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015234
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015234
    reference: chr 9
allele count: 1397
allele frequency: 1.15418298385631e-2
allele num: 121038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.213-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-43T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5399T>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 8.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 8.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 9.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
num of homozygotes: 47
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum

9-37015238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015238
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015238
    reference: chr 9
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5395A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.213-47A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-47A>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

9-37015239-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015239
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015240
    reference: chr 9
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5393_212+5394insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-49_-112-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-49_-112-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.213-49_213-48insT
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

9-37015240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37015240
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37015240
    reference: chr 9
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+5393C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.213-49C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

9-37020586-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020586
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020586
    reference: chr 9
allele count: 2
allele frequency: 1.65264671371201e-5
allele num: 121018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5395C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+47C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5395C>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

9-37020591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020591
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020591
    reference: chr 9
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5400A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5400A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+42A>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

9-37020594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020594
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020594
    reference: chr 9
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5403A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5403A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+39A>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

9-37020601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020601
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020601
    reference: chr 9
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5410C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5410C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+32C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

9-37020616-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020616
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020616
    reference: chr 9
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5425G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5425G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+17G>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10969
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

9-37020616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020616
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020616
    reference: chr 9
allele count: 2
allele frequency: 1.649511744523621e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5425G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5425G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+17G>A
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

9-37020617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020617
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020617
    reference: chr 9
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5426C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5426C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+16C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-37020622-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020622
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020622
    reference: chr 9
allele count: 57134
allele frequency: 4.70819942315616e-1
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5431T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5431T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+11T>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 5.75e1
  variant carriers: 584
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 2.75e1
  variant carriers: 318
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 6.25e1
  variant carriers: 570
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.25e1
  variant carriers: 596
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.75e1
  variant carriers: 733
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 977
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 8.75e1
  variant carriers: 1143
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.25e1
  variant carriers: 634
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.25e1
  variant carriers: 770
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 880
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 3.75e1
  variant carriers: 858
genotype quality: GenotypeQuality
num of homozygotes: 14182
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

9-37020623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020623
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020623
    reference: chr 9
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5432G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5432G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+10G>A
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

9-37020625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020625
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020625
    reference: chr 9
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5434C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5434C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+8C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.212+8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

9-37020625-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020625
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020625
    reference: chr 9
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5434C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5434C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.212+8C>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.212+8C>G
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

9-37020680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020680
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020680
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.165C>T
  hgvsp: ENST00000414447.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.165C>T
  hgvsp: ENST00000446742.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.165C>T
  hgvsp: ENST00000377847.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.165C>T
  hgvsp: ENST00000358127.4:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.165C>T
  hgvsp: ENST00000377853.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5489C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.165C>T
  hgvsp: ENST00000520154.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.165C>T
  hgvsp: ENST00000377840.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.165C>T
  hgvsp: ENST00000523241.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5489C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.165C>T
  hgvsp: ENST00000377852.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.165C>T
  hgvsp: ENST00000523493.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.165C>T
  hgvsp: ENST00000520281.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser55Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

9-37020680-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020680
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020680
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.165C>G
  hgvsp: ENST00000520281.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.165C>G
  hgvsp: ENST00000377840.2:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.165C>G
  hgvsp: ENST00000523493.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.165C>G
  hgvsp: ENST00000358127.4:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.165C>G
  hgvsp: ENST00000377853.2:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.165C>G
  hgvsp: ENST00000377852.2:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.165C>G
  hgvsp: ENST00000414447.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.165C>G
  hgvsp: ENST00000523241.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.165C>G
  hgvsp: ENST00000377847.2:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.165C>G
  hgvsp: ENST00000446742.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5489C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.165C>G
  hgvsp: ENST00000520154.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5489C>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser55Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

9-37020695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020695
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020695
    reference: chr 9
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.150G>A
  hgvsp: ENST00000377852.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.150G>A
  hgvsp: ENST00000377847.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.150G>A
  hgvsp: ENST00000523493.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5504G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5504G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.150G>A
  hgvsp: ENST00000446742.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.150G>A
  hgvsp: ENST00000358127.4:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.150G>A
  hgvsp: ENST00000523241.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.150G>A
  hgvsp: ENST00000377853.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.150G>A
  hgvsp: ENST00000377840.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.150G>A
  hgvsp: ENST00000520281.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.150G>A
  hgvsp: ENST00000520154.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.150G>A
  hgvsp: ENST00000414447.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg50Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

9-37020697-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020697
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020697
    reference: chr 9
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.148A>C
  hgvsp: ENST00000446742.1:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.148A>C
  hgvsp: ENST00000520281.1:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.148A>C
  hgvsp: ENST00000377847.2:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.148A>C
  hgvsp: ENST00000414447.1:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.148A>C
  hgvsp: ENST00000377853.2:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.148A>C
  hgvsp: ENST00000523241.1:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5506A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.148A>C
  hgvsp: ENST00000377852.2:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.148A>C
  hgvsp: ENST00000377840.2:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.148A>C
  hgvsp: ENST00000358127.4:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5506A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.148A>C
  hgvsp: ENST00000520154.1:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.148A>C
  hgvsp: ENST00000523493.1:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg50Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

9-37020703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020703
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020703
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.142G>A
  hgvsp: ENSP00000367071.2:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.142G>A
  hgvsp: ENSP00000350844.4:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.142G>A
  hgvsp: ENSP00000430773.1:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.142G>A
  hgvsp: ENSP00000429637.1:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.142G>A
  hgvsp: ENSP00000367084.2:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5512G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.142G>A
  hgvsp: ENSP00000431038.1:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.142G>A
  hgvsp: ENSP00000367083.2:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5512G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.142G>A
  hgvsp: ENSP00000404687.1:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.142G>A
  hgvsp: ENSP00000429291.1:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.142G>A
  hgvsp: ENSP00000367078.2:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.142G>A
  hgvsp: ENSP00000412188.1:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 3.25e1
  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: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly48Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

9-37020705-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020705
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020705
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.140A>G
  hgvsp: ENSP00000430773.1:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.140A>G
  hgvsp: ENSP00000429291.1:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.140A>G
  hgvsp: ENSP00000367078.2:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.140A>G
  hgvsp: ENSP00000367083.2:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.140A>G
  hgvsp: ENSP00000367071.2:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.140A>G
  hgvsp: ENSP00000412188.1:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.140A>G
  hgvsp: ENSP00000429637.1:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.140A>G
  hgvsp: ENSP00000404687.1:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.140A>G
  hgvsp: ENSP00000367084.2:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5514A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.140A>G
  hgvsp: ENSP00000431038.1:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5514A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.140A>G
  hgvsp: ENSP00000350844.4:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln47Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

9-37020738-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020738
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020738
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.107T>C
  hgvsp: ENSP00000430773.1:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.107T>C
  hgvsp: ENSP00000367071.2:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.107T>C
  hgvsp: ENSP00000429637.1:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5547T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.107T>C
  hgvsp: ENSP00000367084.2:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.107T>C
  hgvsp: ENSP00000404687.1:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.107T>C
  hgvsp: ENSP00000367083.2:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.107T>C
  hgvsp: ENSP00000350844.4:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5547T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.107T>C
  hgvsp: ENSP00000429291.1:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.107T>C
  hgvsp: ENSP00000412188.1:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.107T>C
  hgvsp: ENSP00000367078.2:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.107T>C
  hgvsp: ENSP00000431038.1:p.Val36Ala
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 2.75e1
  variant carriers: 0
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: 8414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val36Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

9-37020739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020739
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020739
    reference: chr 9
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.106G>A
  hgvsp: ENSP00000429637.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.106G>A
  hgvsp: ENSP00000367078.2:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5548G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.106G>A
  hgvsp: ENSP00000350844.4:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.106G>A
  hgvsp: ENSP00000367083.2:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5548G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.106G>A
  hgvsp: ENSP00000412188.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.106G>A
  hgvsp: ENSP00000367071.2:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.106G>A
  hgvsp: ENSP00000367084.2:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.106G>A
  hgvsp: ENSP00000430773.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.106G>A
  hgvsp: ENSP00000404687.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.106G>A
  hgvsp: ENSP00000431038.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.106G>A
  hgvsp: ENSP00000429291.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val36Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

9-37020740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020740
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020740
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.105T>C
  hgvsp: ENST00000520154.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5549T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.105T>C
  hgvsp: ENST00000377852.2:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.105T>C
  hgvsp: ENST00000358127.4:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.105T>C
  hgvsp: ENST00000523241.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.105T>C
  hgvsp: ENST00000377847.2:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.105T>C
  hgvsp: ENST00000520281.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.105T>C
  hgvsp: ENST00000414447.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.105T>C
  hgvsp: ENST00000446742.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.105T>C
  hgvsp: ENST00000523493.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.105T>C
  hgvsp: ENST00000377853.2:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.105T>C
  hgvsp: ENST00000377840.2:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5549T>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp35Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

9-37020743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020743
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020743
    reference: chr 9
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.102G>A
  hgvsp: ENST00000377853.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.102G>A
  hgvsp: ENST00000446742.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5552G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.102G>A
  hgvsp: ENST00000523241.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5552G>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.102G>A
  hgvsp: ENST00000520281.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.102G>A
  hgvsp: ENST00000377852.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.102G>A
  hgvsp: ENST00000414447.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.102G>A
  hgvsp: ENST00000377847.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.102G>A
  hgvsp: ENST00000377840.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.102G>A
  hgvsp: ENST00000523493.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.102G>A
  hgvsp: ENST00000358127.4:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.102G>A
  hgvsp: ENST00000520154.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro34Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

9-37020754-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020754
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020754
    reference: chr 9
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.91C>A
  hgvsp: ENST00000523493.1:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.91C>A
  hgvsp: ENST00000523241.1:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5563C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.91C>A
  hgvsp: ENST00000414447.1:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.91C>A
  hgvsp: ENST00000377853.2:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.91C>A
  hgvsp: ENST00000377847.2:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.91C>A
  hgvsp: ENST00000446742.1:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5563C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.91C>A
  hgvsp: ENST00000520154.1:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.91C>A
  hgvsp: ENST00000377840.2:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.91C>A
  hgvsp: ENST00000520281.1:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.91C>A
  hgvsp: ENST00000377852.2:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.91C>A
  hgvsp: ENST00000358127.4:c.91C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg31Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

9-37020764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020764
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020764
    reference: chr 9
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.81T>C
  hgvsp: ENST00000358127.4:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5573T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.81T>C
  hgvsp: ENST00000377852.2:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.81T>C
  hgvsp: ENST00000377847.2:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.81T>C
  hgvsp: ENST00000414447.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.81T>C
  hgvsp: ENST00000523493.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.81T>C
  hgvsp: ENST00000520281.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.81T>C
  hgvsp: ENST00000523241.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5573T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.81T>C
  hgvsp: ENST00000377853.2:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.81T>C
  hgvsp: ENST00000377840.2:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.81T>C
  hgvsp: ENST00000446742.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.81T>C
  hgvsp: ENST00000520154.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe27Phe
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-37020768-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020768
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020769
    reference: chr 9
allele count: 17
allele frequency: 1.401599472339022e-4
allele num: 121290
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.76dupG
  hgvsp: ENSP00000430773.1:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.76dupG
  hgvsp: ENSP00000429291.1:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.76dupG
  hgvsp: ENSP00000367071.2:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.76dupG
  hgvsp: ENSP00000367083.2:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.76dupG
  hgvsp: ENSP00000404687.1:p.Val26GlyfsTer151
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.76dupG
  hgvsp: ENSP00000429637.1:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5578dupG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.76dupG
  hgvsp: ENSP00000367078.2:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.76dupG
  hgvsp: ENSP00000412188.1:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.76dupG
  hgvsp: ENSP00000350844.4:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.76dupG
  hgvsp: ENSP00000431038.1:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.76dupG
  hgvsp: ENSP00000367084.2:p.Val26GlyfsTer49
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5578dupG
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val26GlyfsTer49
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/9-37020810-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020810
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020810
    reference: chr 9
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5619G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5619G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-12G>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-37020810-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020810
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020810
    reference: chr 9
allele count: 3
allele frequency: 2.479789713832267e-5
allele num: 120978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5619G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5619G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-12G>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

9-37020815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020815
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020815
    reference: chr 9
allele count: 2
allele frequency: 1.655218074981379e-5
allele num: 120830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5624T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5624T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-17T>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/9-37020815-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020815
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020814
    reference: chr 9
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5625delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5625delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-18delG
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: AC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-37020817-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020817
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020817
    reference: chr 9
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5626T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-19T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5626T>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-37020824-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020824
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020824
    reference: chr 9
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5633T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5633T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-26T>A
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

9-37020833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020833
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020833
    reference: chr 9
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5642C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5642C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-35C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-37020833-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020833
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020833
    reference: chr 9
allele count: 10
allele frequency: 8.304268393954493e-5
allele num: 120420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5642C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5642C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-35C>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

9-37020834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020834
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020834
    reference: chr 9
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5643C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5643C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-36C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

9-37020836-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020836
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020836
    reference: chr 9
allele count: 59
allele frequency: 4.909547822324296e-4
allele num: 120174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5645T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5645T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-38T>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

9-37020837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020837
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020837
    reference: chr 9
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5646C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5646C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-39C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

9-37020839-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020839
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020839
    reference: chr 9
allele count: 1
allele frequency: 8.323899580475461e-6
allele num: 120136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5648A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-41A>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5648A>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

9-37020841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020841
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020841
    reference: chr 9
allele count: 13
allele frequency: 1.083531980863158e-4
allele num: 119978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5650C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5650C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-43C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-37020845-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37020845
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37020845
    reference: chr 9
allele count: 3
allele frequency: 2.508403150554357e-5
allele num: 119598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-112-5654G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-112-5654G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-47G>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

9-37026485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37026485
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37026485
    reference: chr 9
allele count: 2
allele frequency: 1.646903820816864e-4
allele num: 12144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-113+7498C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-113+7498C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-5687C>T
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-37026540-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37026540
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37026540
    reference: chr 9
allele count: 2
allele frequency: 1.62999185004075e-4
allele num: 12270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-113+7443A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-113+7443A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-5742A>C
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

9-37026547-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37026547
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37026547
    reference: chr 9
allele count: 1
allele frequency: 8.147303242626691e-5
allele num: 12274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-113+7436C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-113+7436C>G
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-5749C>G
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-37026547-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37026547
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37026547
    reference: chr 9
allele count: 1
allele frequency: 8.147303242626691e-5
allele num: 12274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-113+7436C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-113+7436C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-5749C>A
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

9-37026568-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37026568
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 37026567
    reference: chr 9
allele count: 1
allele frequency: 8.140670791273201e-5
allele num: 12284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429637
  ensembl transcript: ENST00000523241
  gene symbol: PAX5
  hgvsc: ENST00000523241.1:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429291
  ensembl transcript: ENST00000520154
  gene symbol: PAX5
  hgvsc: ENST00000520154.1:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000412188
  ensembl transcript: ENST00000414447
  gene symbol: PAX5
  hgvsc: ENST00000414447.1:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367083
  ensembl transcript: ENST00000377852
  gene symbol: PAX5
  hgvsc: ENST00000377852.2:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429359
  ensembl transcript: ENST00000522003
  gene symbol: PAX5
  hgvsc: ENST00000522003.1:c.-113+7414delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000429197
  ensembl transcript: ENST00000523145
  gene symbol: PAX5
  hgvsc: ENST00000523145.1:c.-113+7414delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367078
  ensembl transcript: ENST00000377847
  gene symbol: PAX5
  hgvsc: ENST00000377847.2:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367084
  ensembl transcript: ENST00000377853
  gene symbol: PAX5
  hgvsc: ENST00000377853.2:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000404687
  ensembl transcript: ENST00000446742
  gene symbol: PAX5
  hgvsc: ENST00000446742.1:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000431038
  ensembl transcript: ENST00000523493
  gene symbol: PAX5
  hgvsc: ENST00000523493.1:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000430773
  ensembl transcript: ENST00000520281
  gene symbol: PAX5
  hgvsc: ENST00000520281.1:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000367071
  ensembl transcript: ENST00000377840
  gene symbol: PAX5
  hgvsc: ENST00000377840.2:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196092
  ensembl protein: ENSP00000350844
  ensembl transcript: ENST00000358127
  gene symbol: PAX5
  hgvsc: ENST00000358127.4:c.47-5771delG
  variant of: http://identifiers.org/hgnc/8619
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
reference allele: TC

GenotypeDepth
all individuals: 810
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2351
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3208
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2940
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50956
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 541
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520250723240116e-5
allele num: 66368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15258
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

FS
type: SiteQuality
SIO_000300: 2.088e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 4.870746e6

GenotypeDepth
all individuals: 2351
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1807
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1071
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2939
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20339
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1558
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50955
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 543
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15442
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.074999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.658e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.634e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.873e1

DP
type: SiteQuality
SIO_000300: 4.87484e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.045e0

QD
type: SiteQuality
SIO_000300: 1.257e1

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1558
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2939
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20339
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4173
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.894032e6

MQRankSum
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ClippingRankSum
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SIO_000300: 7.22e-1

QD
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SIO_000300: 1.065e1

FS
type: SiteQuality
SIO_000300: 1.391e0

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -2.809e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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SIO_000300: 4.896558e6

MQ
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SIO_000300: 5.935e1

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 16464
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e0

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e-1

MQRankSum
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SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 4.896633e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 4

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498830304120928e-5
allele num: 66684
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212709192335678e-4
allele num: 16492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.476e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
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SIO_000300: 1.95e-1

DP
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SIO_000300: 4.897211e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 5.702e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 3.77e-1

QD
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SIO_000300: 1.12e1

DP
type: SiteQuality
SIO_000300: 4.897166e6

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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Other
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European (Finnish)
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QD
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ClippingRankSum
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FS
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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Other
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South Asian
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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FS
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele num: 16512
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Other
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Latino
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East Asian
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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VQSLOD
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16512
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African
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East Asian
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European (Finnish)
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Latino
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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allele num: 16512
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Latino
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Other
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East Asian
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Other
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Latino
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European (Finnish)
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South Asian
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 7.255139056831923e-3
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

Other
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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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African
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allele num: 10392
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East Asian
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Latino
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South Asian
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BaseQRankSum
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SIO_000300: -1.605e0

ClippingRankSum
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SIO_000300: 7.44e-1

MQRankSum
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 5.951e1

QD
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SIO_000300: 2.766e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

QD
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BaseQRankSum
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SIO_000300: 2.92e-1

FS
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ClippingRankSum
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SIO_000300: -6.8e-2

ReadPosRankSum
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MQ
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SIO_000300: 5.949e1

DP
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MQRankSum
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SIO_000300: 3.71e-1

InbreedingCoeff
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GenotypeDepth
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variant carriers: 54

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 97
allele frequency: 8.377958196579721e-3
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num of homozygotes: 0

African
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allele frequency: 9.899845916795069e-2
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European (Non-Finnish)
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allele frequency: 1.096655950485233e-3
allele num: 66566
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Other
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European (Finnish)
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East Asian
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South Asian
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allele frequency: 1.162079510703364e-2
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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QD
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8642
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

African
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South Asian
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East Asian
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European (Finnish)
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MQRankSum
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DP
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MQ
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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GenotypeDepth
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variant carriers: 1

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

African
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South Asian
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Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.004627125773691e-5
allele num: 66564
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

European (Finnish)
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East Asian
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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SIO_000300: 2.09e-1

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele num: 66580
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16358
num of homozygotes: 0

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

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

European (Finnish)
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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FS
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.371e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 4.0672e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 1760
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45593
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.828e1

MQRankSum
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SIO_000300: 9.18e-1

ClippingRankSum
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SIO_000300: -8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.679e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

FS
type: SiteQuality
SIO_000300: 1.473e0

DP
type: SiteQuality
SIO_000300: 4.067856e6

BaseQRankSum
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SIO_000300: 1.76e0

GenotypeDepth
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variant carriers: 870

GenotypeDepth
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variant carriers: 31784

GenotypeDepth
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variant carriers: 593

GenotypeDepth
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variant carriers: 1404

GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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variant carriers: 76

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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variant carriers: 42624

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 30

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 49

GenotypeQuality
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variant carriers: 48

GenotypeQuality
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GenotypeQuality
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variant carriers: 28

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 6.75e1
variant carriers: 33

East Asian
type: Population
allele count: 4370
allele frequency: 5.057870370370371e-1
allele num: 8640
num of homozygotes: 1098

South Asian
type: Population
allele count: 9837
allele frequency: 5.958929004119214e-1
allele num: 16508
num of homozygotes: 2969

African
type: Population
allele count: 6464
allele frequency: 6.212995001922338e-1
allele num: 10404
num of homozygotes: 1989

European (Finnish)
type: Population
allele count: 3499
allele frequency: 5.290293317205926e-1
allele num: 6614
num of homozygotes: 913

Latino
type: Population
allele count: 6746
allele frequency: 5.829588662288282e-1
allele num: 11572
num of homozygotes: 2014

Other
type: Population
allele count: 368
allele frequency: 4.052863436123348e-1
allele num: 908
num of homozygotes: 78

European (Non-Finnish)
type: Population
allele count: 25850
allele frequency: 3.87532981530343e-1
allele num: 66704
num of homozygotes: 5121

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.860283e6

InbreedingCoeff
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SIO_000300: 5.23e-2

BaseQRankSum
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SIO_000300: 4.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 2.091e1

GenotypeDepth
all individuals: 177
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variant carriers: 0

GenotypeDepth
all individuals: 906
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11451
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variant carriers: 0

GenotypeQuality
all individuals: 4330
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.508e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 2.587117e6

FS
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.587084e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 4.18e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2249
bin: 8.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.116e0

InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: -3.471e0

ReadPosRankSum
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SIO_000300: -1.12e0

DP
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SIO_000300: 2.586269e6

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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DP
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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DP
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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MQ
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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Other
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MQRankSum
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FS
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QD
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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MQ
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DP
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GenotypeDepth
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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FS
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -5.5e-2

QD
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MQ
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SIO_000300: 5.98e1

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

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

South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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BaseQRankSum
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -8.9e-1

DP
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SIO_000300: 2.585406e6

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

QD
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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SIO_000300: 2.0e-2

BaseQRankSum
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DP
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SIO_000300: 2.585346e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

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

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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SIO_000300: 5.976e1

DP
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GenotypeDepth
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variant carriers: 1

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66642
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 3.003724618526973e-5
allele num: 66584
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 3.005710850616171e-5
allele num: 66540
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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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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African
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

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

East Asian
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allele num: 8652
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MQ
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QD
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.049e0

ReadPosRankSum
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QD
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SIO_000300: 1.075e1

MQ
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SIO_000300: 5.942e1

MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -7.0e-4

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

African
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allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 15722
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.457216940363008e-4
allele num: 11570
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 53
allele frequency: 7.984813788116187e-4
allele num: 66376
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -1.07e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: -1.3e-3

MQ
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ClippingRankSum
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BaseQRankSum
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SIO_000300: 3.27e-1

ReadPosRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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SIO_000300: 5.723e1

ReadPosRankSum
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SIO_000300: -6.38e-1

MQRankSum
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SIO_000300: 9.83e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

BaseQRankSum
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QD
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SIO_000300: 1.154e1

DP
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ClippingRankSum
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SIO_000300: 1.19e0

VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
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QD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.915e0

ClippingRankSum
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SIO_000300: 4.72e-1

MQ
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SIO_000300: 5.924e1

InbreedingCoeff
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SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.484162e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeDepth
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variant carriers: 3

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.356402218471184e-4
allele num: 66352
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
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SIO_000300: 2.478458e6

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
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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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.68e0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7534
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 3.558718861209964e-3
allele num: 562
num of homozygotes: 0

East Asian
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Other
type: Population
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num of homozygotes: 0

InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

MQRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
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variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 2163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1716
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
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: 3196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.626050420168067e-4
allele num: 7616
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.8044e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.474e-1

FS
type: SiteQuality
SIO_000300: 2.979e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

QD
type: SiteQuality
SIO_000300: 8.98e0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 2159
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variant carriers: 0

GenotypeDepth
all individuals: 56
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variant carriers: 0

GenotypeDepth
all individuals: 20
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 205
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1748
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 291
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.313025210084034e-4
allele num: 7616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

FS
type: SiteQuality
SIO_000300: 4.635e0

DP
type: SiteQuality
SIO_000300: 1.80551e5

VQSLOD
type: SiteQuality
SIO_000300: -2.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

QD
type: SiteQuality
SIO_000300: 4.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeDepth
all individuals: 32
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1748
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.333e0

QD
type: SiteQuality
SIO_000300: 4.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 1.80551e5

BaseQRankSum
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SIO_000300: 4.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 4.635e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

GenotypeDepth
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 2137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1739
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variant carriers: 0

GenotypeQuality
all individuals: 374
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variant carriers: 0

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

GenotypeQuality
all individuals: 949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.787068004459309e-4
allele num: 3588
num of homozygotes: 0