22-29746020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746020
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746020
    reference: chr 22
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.408+4C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1271+4C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1271+4C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1271+4C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1271+4C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1271+4C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1271+4C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1271+4C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1271+4C>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1271+4C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

22-29746020-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746020
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746020
    reference: chr 22
allele count: 8
allele frequency: 6.593044338223174e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1271+4C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1271+4C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1271+4C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1271+4C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1271+4C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1271+4C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1271+4C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.408+4C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1271+4C>G
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1271+4C>G
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

22-29746026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746026
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746026
    reference: chr 22
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1269C>T
  hgvsp: ENST00000421126.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1269C>T
  hgvsp: ENST00000432560.2:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1269C>T
  hgvsp: ENST00000357586.2:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.406C>T
  hgvsp: ENST00000415756.1:c.406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1269C>T
  hgvsp: ENST00000317368.7:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1269C>T
  hgvsp: ENST00000405198.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1269C>T
  hgvsp: ENST00000415447.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1269C>T
  hgvsp: ENST00000402502.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1269C>T
  hgvsp: ENST00000356015.2:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1269C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

22-29746028-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746028
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746028
    reference: chr 22
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1267A>G
  hgvsp: ENSP00000350199.2:p.Asn423Asp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.404A>G
  hgvsp: ENSP00000392735.1:p.Asn136Asp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1267A>G
  hgvsp: ENSP00000319361.7:p.Asn423Asp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1267A>G
  hgvsp: ENSP00000348297.2:p.Asn423Asp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1267A>G
  hgvsp: ENSP00000400065.2:p.Asn423Asp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1267A>G
  hgvsp: ENSP00000400022.1:p.Asn423Asp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1267A>G
  hgvsp: ENSP00000386071.1:p.Asn423Asp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1267A>G
  hgvsp: ENSP00000387612.1:p.Asn423Asp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1267A>G
  hgvsp: ENSP00000384194.1:p.Asn423Asp
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39346
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn423Asp
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-29746039-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746039
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746039
    reference: chr 22
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1256G>T
  hgvsp: ENSP00000400022.1:p.Arg419Leu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1256G>T
  hgvsp: ENSP00000384194.1:p.Arg419Leu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1256G>T
  hgvsp: ENSP00000348297.2:p.Arg419Leu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1256G>T
  hgvsp: ENSP00000350199.2:p.Arg419Leu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1256G>T
  hgvsp: ENSP00000319361.7:p.Arg419Leu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.393G>T
  hgvsp: ENSP00000392735.1:p.Arg132Leu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1256G>T
  hgvsp: ENSP00000400065.2:p.Arg419Leu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1256G>T
  hgvsp: ENSP00000386071.1:p.Arg419Leu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1256G>T
  hgvsp: ENSP00000387612.1:p.Arg419Leu
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg419Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

22-29746039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746039
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746039
    reference: chr 22
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1256G>A
  hgvsp: ENSP00000348297.2:p.Arg419His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1256G>A
  hgvsp: ENSP00000387612.1:p.Arg419His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1256G>A
  hgvsp: ENSP00000386071.1:p.Arg419His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.393G>A
  hgvsp: ENSP00000392735.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1256G>A
  hgvsp: ENSP00000400022.1:p.Arg419His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1256G>A
  hgvsp: ENSP00000350199.2:p.Arg419His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1256G>A
  hgvsp: ENSP00000400065.2:p.Arg419His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1256G>A
  hgvsp: ENSP00000319361.7:p.Arg419His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1256G>A
  hgvsp: ENSP00000384194.1:p.Arg419His
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg419His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

22-29746061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746061
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746061
    reference: chr 22
allele count: 5
allele frequency: 4.119023297195769e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1234G>A
  hgvsp: ENSP00000400065.2:p.Val412Met
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1234G>A
  hgvsp: ENSP00000319361.7:p.Val412Met
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1234G>A
  hgvsp: ENSP00000350199.2:p.Val412Met
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.371G>A
  hgvsp: ENSP00000392735.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1234G>A
  hgvsp: ENSP00000400022.1:p.Val412Met
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1234G>A
  hgvsp: ENSP00000386071.1:p.Val412Met
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1234G>A
  hgvsp: ENSP00000348297.2:p.Val412Met
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1234G>A
  hgvsp: ENSP00000387612.1:p.Val412Met
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1234G>A
  hgvsp: ENSP00000384194.1:p.Val412Met
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39380
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val412Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

22-29746062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746062
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746062
    reference: chr 22
allele count: 10
allele frequency: 8.238182327451271e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1233C>T
  hgvsp: ENST00000421126.1:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1233C>T
  hgvsp: ENST00000402502.1:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1233C>T
  hgvsp: ENST00000415447.1:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1233C>T
  hgvsp: ENST00000357586.2:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1233C>T
  hgvsp: ENST00000356015.2:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1233C>T
  hgvsp: ENST00000317368.7:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1233C>T
  hgvsp: ENST00000432560.2:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.370C>T
  hgvsp: ENST00000415756.1:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1233C>T
  hgvsp: ENST00000405198.1:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile411Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

22-29746065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746065
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746065
    reference: chr 22
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1230C>T
  hgvsp: ENST00000432560.2:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1230C>T
  hgvsp: ENST00000357586.2:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1230C>T
  hgvsp: ENST00000405198.1:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1230C>T
  hgvsp: ENST00000402502.1:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.367C>T
  hgvsp: ENST00000415756.1:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1230C>T
  hgvsp: ENST00000421126.1:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1230C>T
  hgvsp: ENST00000317368.7:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1230C>T
  hgvsp: ENST00000356015.2:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1230C>T
  hgvsp: ENST00000415447.1:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala410Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum

22-29746074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746074
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746074
    reference: chr 22
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1221C>T
  hgvsp: ENST00000356015.2:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1221C>T
  hgvsp: ENST00000357586.2:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1221C>T
  hgvsp: ENST00000402502.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1221C>T
  hgvsp: ENST00000415447.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1221C>T
  hgvsp: ENST00000421126.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1221C>T
  hgvsp: ENST00000317368.7:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1221C>T
  hgvsp: ENST00000405198.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1221C>T
  hgvsp: ENST00000432560.2:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.358C>T
  hgvsp: ENST00000415756.1:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val407Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

22-29746095-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746095
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746095
    reference: chr 22
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1200G>C
  hgvsp: ENSP00000387612.1:p.Gln400His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1200G>C
  hgvsp: ENSP00000400065.2:p.Gln400His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1200G>C
  hgvsp: ENSP00000386071.1:p.Gln400His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1200G>C
  hgvsp: ENSP00000384194.1:p.Gln400His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1200G>C
  hgvsp: ENSP00000348297.2:p.Gln400His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1200G>C
  hgvsp: ENSP00000350199.2:p.Gln400His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1200G>C
  hgvsp: ENSP00000400022.1:p.Gln400His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.337G>C
  hgvsp: ENSP00000392735.1:p.Gln113His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1200G>C
  hgvsp: ENSP00000319361.7:p.Gln400His
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln400His
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

22-29746101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746101
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746101
    reference: chr 22
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1194C>T
  hgvsp: ENST00000356015.2:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1194C>T
  hgvsp: ENST00000357586.2:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1194C>T
  hgvsp: ENST00000402502.1:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1194C>T
  hgvsp: ENST00000415447.1:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.331C>T
  hgvsp: ENST00000415756.1:c.331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1194C>T
  hgvsp: ENST00000317368.7:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1194C>T
  hgvsp: ENST00000421126.1:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1194C>T
  hgvsp: ENST00000432560.2:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1194C>T
  hgvsp: ENST00000405198.1:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu398Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-29746104-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746104
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746104
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.328C>A
  hgvsp: ENSP00000392735.1:p.Asp110Glu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1191C>A
  hgvsp: ENSP00000400065.2:p.Asp397Glu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1191C>A
  hgvsp: ENSP00000387612.1:p.Asp397Glu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1191C>A
  hgvsp: ENSP00000384194.1:p.Asp397Glu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1191C>A
  hgvsp: ENSP00000348297.2:p.Asp397Glu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1191C>A
  hgvsp: ENSP00000350199.2:p.Asp397Glu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1191C>A
  hgvsp: ENSP00000319361.7:p.Asp397Glu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1191C>A
  hgvsp: ENSP00000386071.1:p.Asp397Glu
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1191C>A
  hgvsp: ENSP00000400022.1:p.Asp397Glu
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp397Glu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

22-29746106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746106
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746106
    reference: chr 22
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1189G>A
  hgvsp: ENSP00000400022.1:p.Asp397Asn
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1189G>A
  hgvsp: ENSP00000319361.7:p.Asp397Asn
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1189G>A
  hgvsp: ENSP00000350199.2:p.Asp397Asn
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1189G>A
  hgvsp: ENSP00000348297.2:p.Asp397Asn
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.326G>A
  hgvsp: ENSP00000392735.1:p.Asp110Asn
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1189G>A
  hgvsp: ENSP00000400065.2:p.Asp397Asn
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1189G>A
  hgvsp: ENSP00000384194.1:p.Asp397Asn
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1189G>A
  hgvsp: ENSP00000387612.1:p.Asp397Asn
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1189G>A
  hgvsp: ENSP00000386071.1:p.Asp397Asn
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp397Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

22-29746107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746107
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746107
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1188C>T
  hgvsp: ENST00000421126.1:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1188C>T
  hgvsp: ENST00000415447.1:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1188C>T
  hgvsp: ENST00000432560.2:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.325C>T
  hgvsp: ENST00000415756.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1188C>T
  hgvsp: ENST00000317368.7:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1188C>T
  hgvsp: ENST00000405198.1:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1188C>T
  hgvsp: ENST00000357586.2:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1188C>T
  hgvsp: ENST00000402502.1:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1188C>T
  hgvsp: ENST00000356015.2:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9878
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu396Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/22-29746108-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746108
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746108
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1187T>G
  hgvsp: ENSP00000319361.7:p.Leu396Arg
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1187T>G
  hgvsp: ENSP00000384194.1:p.Leu396Arg
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1187T>G
  hgvsp: ENSP00000400065.2:p.Leu396Arg
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1187T>G
  hgvsp: ENSP00000400022.1:p.Leu396Arg
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1187T>G
  hgvsp: ENSP00000387612.1:p.Leu396Arg
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1187T>G
  hgvsp: ENSP00000386071.1:p.Leu396Arg
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1187T>G
  hgvsp: ENSP00000350199.2:p.Leu396Arg
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.324T>G
  hgvsp: ENSP00000392735.1:p.Leu109Arg
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1187T>G
  hgvsp: ENSP00000348297.2:p.Leu396Arg
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu396Arg
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

22-29746113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746113
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746113
    reference: chr 22
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1182G>A
  hgvsp: ENST00000421126.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1182G>A
  hgvsp: ENST00000405198.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1182G>A
  hgvsp: ENST00000432560.2:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1182G>A
  hgvsp: ENST00000317368.7:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.319G>A
  hgvsp: ENST00000415756.1:c.319G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1182G>A
  hgvsp: ENST00000402502.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1182G>A
  hgvsp: ENST00000357586.2:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1182G>A
  hgvsp: ENST00000415447.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1182G>A
  hgvsp: ENST00000356015.2:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr394Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS

22-29746119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746119
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746119
    reference: chr 22
allele count: 3
allele frequency: 2.473573984597879e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1176G>A
  hgvsp: ENST00000356015.2:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.313G>A
  hgvsp: ENST00000415756.1:c.313G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1176G>A
  hgvsp: ENST00000317368.7:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1176G>A
  hgvsp: ENST00000402502.1:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1176G>A
  hgvsp: ENST00000432560.2:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1176G>A
  hgvsp: ENST00000421126.1:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1176G>A
  hgvsp: ENST00000405198.1:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1176G>A
  hgvsp: ENST00000357586.2:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1176G>A
  hgvsp: ENST00000415447.1:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val392Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

22-29746126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746126
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746126
    reference: chr 22
allele count: 4
allele frequency: 3.301583109100814e-5
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1169G>A
  hgvsp: ENSP00000400022.1:p.Arg390His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1169G>A
  hgvsp: ENSP00000384194.1:p.Arg390His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1169G>A
  hgvsp: ENSP00000386071.1:p.Arg390His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1169G>A
  hgvsp: ENSP00000350199.2:p.Arg390His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1169G>A
  hgvsp: ENSP00000400065.2:p.Arg390His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1169G>A
  hgvsp: ENSP00000348297.2:p.Arg390His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1169G>A
  hgvsp: ENSP00000319361.7:p.Arg390His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.306G>A
  hgvsp: ENSP00000392735.1:p.Arg103His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1169G>A
  hgvsp: ENSP00000387612.1:p.Arg390His
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg390His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

22-29746128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746128
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746128
    reference: chr 22
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1167G>A
  hgvsp: ENST00000317368.7:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.304G>A
  hgvsp: ENST00000415756.1:c.304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1167G>A
  hgvsp: ENST00000357586.2:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1167G>A
  hgvsp: ENST00000356015.2:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1167G>A
  hgvsp: ENST00000405198.1:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1167G>A
  hgvsp: ENST00000402502.1:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1167G>A
  hgvsp: ENST00000415447.1:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1167G>A
  hgvsp: ENST00000421126.1:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1167G>A
  hgvsp: ENST00000432560.2:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu389Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

22-29746131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746131
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746131
    reference: chr 22
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1164G>A
  hgvsp: ENST00000402502.1:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1164G>A
  hgvsp: ENST00000317368.7:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1164G>A
  hgvsp: ENST00000421126.1:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1164G>A
  hgvsp: ENST00000415447.1:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1164G>A
  hgvsp: ENST00000405198.1:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1164G>A
  hgvsp: ENST00000432560.2:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1164G>A
  hgvsp: ENST00000357586.2:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.301G>A
  hgvsp: ENST00000415756.1:c.301G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1164G>A
  hgvsp: ENST00000356015.2:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala388Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

22-29746132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746132
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746132
    reference: chr 22
allele count: 2
allele frequency: 1.653739932858159e-5
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1163C>T
  hgvsp: ENSP00000350199.2:p.Ala388Val
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1163C>T
  hgvsp: ENSP00000400022.1:p.Ala388Val
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1163C>T
  hgvsp: ENSP00000400065.2:p.Ala388Val
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1163C>T
  hgvsp: ENSP00000386071.1:p.Ala388Val
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.300C>T
  hgvsp: ENSP00000392735.1:p.Ala101Val
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1163C>T
  hgvsp: ENSP00000319361.7:p.Ala388Val
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1163C>T
  hgvsp: ENSP00000384194.1:p.Ala388Val
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1163C>T
  hgvsp: ENSP00000387612.1:p.Ala388Val
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1163C>T
  hgvsp: ENSP00000348297.2:p.Ala388Val
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala388Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

22-29746145-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746145
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746145
    reference: chr 22
allele count: 6
allele frequency: 4.986785019697801e-5
allele num: 120318
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-6A>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-6A>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-6A>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-6A>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-6A>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-6A>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-6A>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-6A>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-6A>G
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27372
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9347
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1156-6A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

22-29746147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746147
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746147
    reference: chr 22
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-8C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-8C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-8C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-8C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-8C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-8C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-8C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-8C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-8C>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1156-8C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

22-29746147-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746147
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746147
    reference: chr 22
allele count: 23
allele frequency: 1.91452877619991e-4
allele num: 120134
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-8C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-8C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-8C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-8C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-8C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-8C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-8C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-8C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-8C>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13966
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27180
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1156-8C>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

22-29746151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746151
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746151
    reference: chr 22
allele count: 2
allele frequency: 1.671933256424403e-5
allele num: 119622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-12C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-12C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-12C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-12C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-12C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-12C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-12C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-12C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-12C>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

22-29746153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746153
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746153
    reference: chr 22
allele count: 2
allele frequency: 1.6827651196446e-5
allele num: 118852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-14C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-14C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-14C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-14C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-14C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-14C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-14C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-14C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-14C>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13182
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

22-29746156-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746156
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746156
    reference: chr 22
allele count: 3
allele frequency: 2.550109654715153e-5
allele num: 117642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-17C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-17C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-17C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-17C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-17C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-17C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-17C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-17C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-17C>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22672
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-29746164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746164
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746164
    reference: chr 22
allele count: 5
allele frequency: 4.277525879031568e-5
allele num: 116890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-25C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-25C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-25C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-25C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-25C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-25C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-25C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-25C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-25C>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

22-29746165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746165
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746165
    reference: chr 22
allele count: 4
allele frequency: 3.441629955947137e-5
allele num: 116224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-26G>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11117
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5026
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-29746166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746166
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746166
    reference: chr 22
allele count: 1
allele frequency: 8.606888953918716e-6
allele num: 116186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-27C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-27C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-27C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-27C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-27C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-27C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-27C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-27C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-27C>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

22-29746168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746168
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746168
    reference: chr 22
allele count: 3
allele frequency: 2.589063794531897e-5
allele num: 115872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-29C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-29C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-29C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-29C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-29C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-29C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-29C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-29C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-29C>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16957
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-29746171-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746171
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746171
    reference: chr 22
allele count: 1
allele frequency: 8.67799434194769e-6
allele num: 115234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-32G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-32G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-32G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-32G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-32G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-32G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-32G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-32G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-32G>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8306
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

22-29746172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746172
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746172
    reference: chr 22
allele count: 1
allele frequency: 8.680856974200494e-6
allele num: 115196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-33G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-33G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-33G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-33G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-33G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-33G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-33G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-33G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-33G>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14759
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6069
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-29746173-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746173
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746173
    reference: chr 22
allele count: 3
allele frequency: 2.61142061281337e-5
allele num: 114880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-34G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-34G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-34G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-34G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-34G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-34G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-34G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-34G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-34G>C
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11638
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

22-29746174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746174
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746174
    reference: chr 22
allele count: 6
allele frequency: 5.244571868116499e-5
allele num: 114404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-35G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-35G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-35G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-35G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-35G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-35G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-35G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-35G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-35G>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13375
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-29746176-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746176
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746177
    reference: chr 22
allele count: 1
allele frequency: 8.782869890565442e-6
allele num: 113858
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-38dupT
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-38dupT
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-38dupT
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-38dupT
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-38dupT
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-38dupT
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-38dupT
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-38dupT
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-38dupT
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

22-29746176-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746176
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746176
    reference: chr 22
allele count: 1
allele frequency: 8.782869890565442e-6
allele num: 113858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-37G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-37G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-37G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-37G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-37G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-37G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-37G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-37G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-37G>C
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

22-29746179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746179
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746179
    reference: chr 22
allele count: 1
allele frequency: 8.823788934968676e-6
allele num: 113330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-40G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-40G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-40G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-40G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-40G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-40G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-40G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-40G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-40G>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14395
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-29746186-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746186
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746186
    reference: chr 22
allele count: 37
allele frequency: 3.328056415053609e-4
allele num: 111176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-47G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-47G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-47G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-47G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-47G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-47G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-47G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-47G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-47G>C
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16041
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11824
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

22-29746189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746189
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746189
    reference: chr 22
allele count: 21
allele frequency: 1.899111939083724e-4
allele num: 110578
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-50C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-50C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-50C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-50C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-50C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-50C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-50C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-50C>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-50C>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15934
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12395
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12294
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

22-29746191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29746191
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29746191
    reference: chr 22
allele count: 1
allele frequency: 9.095705008095177e-6
allele num: 109942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.293-52T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1156-52T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1156-52T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1156-52T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1156-52T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1156-52T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1156-52T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1156-52T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1156-52T>C
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15876
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

22-29747112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747112
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747112
    reference: chr 22
allele count: 4
allele frequency: 3.469331112961421e-5
allele num: 115296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+48G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+48G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+48G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+48G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+48G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+48G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+48G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+48G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+48G>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

22-29747113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747113
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747113
    reference: chr 22
allele count: 1
allele frequency: 8.663409224798143e-6
allele num: 115428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+47T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+47T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+47T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+47T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+47T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+47T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+47T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+47T>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+47T>C
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-29747113-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747113
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747112
    reference: chr 22
allele count: 1
allele frequency: 8.663409224798143e-6
allele num: 115428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+46delC
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+46delC
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+46delC
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+46delC
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+46delC
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+46delC
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+46delC
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+46delC
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+46delC
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: AG
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-29747115-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747115
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747115
    reference: chr 22
allele count: 1
allele frequency: 8.667914846404549e-6
allele num: 115368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+45G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+45G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+45G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+45G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+45G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+45G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+45G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+45G>T
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+45G>T
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

22-29747115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747115
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747115
    reference: chr 22
allele count: 32
allele frequency: 2.773732750849456e-4
allele num: 115368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+45G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+45G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+45G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+45G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+45G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+45G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+45G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+45G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+45G>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

22-29747118-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747118
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747118
    reference: chr 22
allele count: 1
allele frequency: 8.653513326410523e-6
allele num: 115560
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+42G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+42G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+42G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+42G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+42G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+42G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+42G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+42G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+42G>C
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

22-29747134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747134
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747134
    reference: chr 22
allele count: 1
allele frequency: 8.573535211509113e-6
allele num: 116638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+26G>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+26G>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

22-29747135-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747135
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747135
    reference: chr 22
allele count: 65
allele frequency: 5.564306259416518e-4
allele num: 116816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+25G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+25G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+25G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+25G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+25G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+25G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+25G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+25G>C
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+25G>C
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-29747143-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747143
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747143
    reference: chr 22
allele count: 1
allele frequency: 8.50065455040038e-6
allele num: 117638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+17C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+17C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+17C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+17C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+17C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+17C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+17C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+17C>G
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+17C>G
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

22-29747153-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747153
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747153
    reference: chr 22
allele count: 2
allele frequency: 1.683870207284422e-5
allele num: 118774
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1155+7C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.292+7C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1155+7C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1155+7C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1155+7C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1155+7C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1155+7C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1155+7C>A
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1155+7C>A
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45269
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1155+7C>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-29747174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747174
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747174
    reference: chr 22
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1141G>A
  hgvsp: ENSP00000384194.1:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1141G>A
  hgvsp: ENSP00000350199.2:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1141G>A
  hgvsp: ENSP00000400022.1:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1141G>A
  hgvsp: ENSP00000348297.2:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1141G>A
  hgvsp: ENSP00000319361.7:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1141G>A
  hgvsp: ENSP00000386071.1:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1141G>A
  hgvsp: ENSP00000387612.1:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1141G>A
  hgvsp: ENSP00000400065.2:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.278G>A
  hgvsp: ENSP00000392735.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala381Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

22-29747175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747175
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747175
    reference: chr 22
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1140C>T
  hgvsp: ENST00000317368.7:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.277C>T
  hgvsp: ENST00000415756.1:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1140C>T
  hgvsp: ENST00000356015.2:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1140C>T
  hgvsp: ENST00000415447.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1140C>T
  hgvsp: ENST00000405198.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1140C>T
  hgvsp: ENST00000402502.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1140C>T
  hgvsp: ENST00000357586.2:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1140C>T
  hgvsp: ENST00000421126.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1140C>T
  hgvsp: ENST00000432560.2:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys380Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

22-29747180-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747180
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747180
    reference: chr 22
allele count: 2
allele frequency: 1.654588173003739e-5
allele num: 120876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1135C>T
  hgvsp: ENSP00000348297.2:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.272C>T
  hgvsp: ENSP00000392735.1:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1135C>T
  hgvsp: ENSP00000350199.2:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1135C>T
  hgvsp: ENSP00000384194.1:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1135C>T
  hgvsp: ENSP00000386071.1:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1135C>T
  hgvsp: ENSP00000400065.2:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1135C>T
  hgvsp: ENSP00000400022.1:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1135C>T
  hgvsp: ENSP00000319361.7:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1135C>T
  hgvsp: ENSP00000387612.1:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg379Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

22-29747191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747191
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747191
    reference: chr 22
allele count: 7
allele frequency: 5.778819799887726e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1124G>A
  hgvsp: ENSP00000350199.2:p.Arg375His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1124G>A
  hgvsp: ENSP00000348297.2:p.Arg375His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1124G>A
  hgvsp: ENSP00000384194.1:p.Arg375His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1124G>A
  hgvsp: ENSP00000386071.1:p.Arg375His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1124G>A
  hgvsp: ENSP00000400022.1:p.Arg375His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1124G>A
  hgvsp: ENSP00000319361.7:p.Arg375His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1124G>A
  hgvsp: ENSP00000387612.1:p.Arg375His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.261G>A
  hgvsp: ENSP00000392735.1:p.Arg88His
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1124G>A
  hgvsp: ENSP00000400065.2:p.Arg375His
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg375His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

22-29747192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747192
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747192
    reference: chr 22
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1123C>T
  hgvsp: ENSP00000400022.1:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.260C>T
  hgvsp: ENSP00000392735.1:p.Arg88Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1123C>T
  hgvsp: ENSP00000319361.7:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1123C>T
  hgvsp: ENSP00000350199.2:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1123C>T
  hgvsp: ENSP00000386071.1:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1123C>T
  hgvsp: ENSP00000348297.2:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1123C>T
  hgvsp: ENSP00000400065.2:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1123C>T
  hgvsp: ENSP00000387612.1:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1123C>T
  hgvsp: ENSP00000384194.1:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg375Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

22-29747192-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747192
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747192
    reference: chr 22
allele count: 4
allele frequency: 3.301310620316266e-5
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1123C>G
  hgvsp: ENSP00000400022.1:p.Arg375Gly
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1123C>G
  hgvsp: ENSP00000350199.2:p.Arg375Gly
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1123C>G
  hgvsp: ENSP00000386071.1:p.Arg375Gly
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1123C>G
  hgvsp: ENSP00000319361.7:p.Arg375Gly
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1123C>G
  hgvsp: ENSP00000400065.2:p.Arg375Gly
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1123C>G
  hgvsp: ENSP00000348297.2:p.Arg375Gly
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1123C>G
  hgvsp: ENSP00000384194.1:p.Arg375Gly
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.260C>G
  hgvsp: ENSP00000392735.1:p.Arg88Gly
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1123C>G
  hgvsp: ENSP00000387612.1:p.Arg375Gly
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47271
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg375Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

22-29747196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747196
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747196
    reference: chr 22
allele count: 6
allele frequency: 4.949188333113369e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1119T>C
  hgvsp: ENST00000402502.1:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1119T>C
  hgvsp: ENST00000415447.1:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1119T>C
  hgvsp: ENST00000317368.7:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1119T>C
  hgvsp: ENST00000405198.1:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1119T>C
  hgvsp: ENST00000356015.2:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1119T>C
  hgvsp: ENST00000432560.2:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.256T>C
  hgvsp: ENST00000415756.1:c.256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1119T>C
  hgvsp: ENST00000357586.2:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1119T>C
  hgvsp: ENST00000421126.1:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13368
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala373Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/22-29747198-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747198
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747198
    reference: chr 22
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1117G>T
  hgvsp: ENSP00000384194.1:p.Ala373Ser
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1117G>T
  hgvsp: ENSP00000319361.7:p.Ala373Ser
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.254G>T
  hgvsp: ENSP00000392735.1:p.Ala86Ser
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1117G>T
  hgvsp: ENSP00000386071.1:p.Ala373Ser
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1117G>T
  hgvsp: ENSP00000350199.2:p.Ala373Ser
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1117G>T
  hgvsp: ENSP00000400022.1:p.Ala373Ser
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1117G>T
  hgvsp: ENSP00000387612.1:p.Ala373Ser
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1117G>T
  hgvsp: ENSP00000400065.2:p.Ala373Ser
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1117G>T
  hgvsp: ENSP00000348297.2:p.Ala373Ser
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala373Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

22-29747199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747199
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747199
    reference: chr 22
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1116G>A
  hgvsp: ENST00000356015.2:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.253G>A
  hgvsp: ENST00000415756.1:c.253G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1116G>A
  hgvsp: ENST00000405198.1:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1116G>A
  hgvsp: ENST00000421126.1:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1116G>A
  hgvsp: ENST00000402502.1:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1116G>A
  hgvsp: ENST00000357586.2:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1116G>A
  hgvsp: ENST00000317368.7:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1116G>A
  hgvsp: ENST00000415447.1:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1116G>A
  hgvsp: ENST00000432560.2:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys372Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

22-29747203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747203
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747203
    reference: chr 22
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1112G>A
  hgvsp: ENSP00000386071.1:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1112G>A
  hgvsp: ENSP00000348297.2:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.249G>A
  hgvsp: ENSP00000392735.1:p.Arg84Gln
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1112G>A
  hgvsp: ENSP00000400022.1:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1112G>A
  hgvsp: ENSP00000400065.2:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1112G>A
  hgvsp: ENSP00000387612.1:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1112G>A
  hgvsp: ENSP00000384194.1:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1112G>A
  hgvsp: ENSP00000319361.7:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1112G>A
  hgvsp: ENSP00000350199.2:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg371Gln
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: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-29747204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747204
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747204
    reference: chr 22
allele count: 4
allele frequency: 3.297663605335619e-5
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1111C>T
  hgvsp: ENSP00000319361.7:p.Arg371Trp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1111C>T
  hgvsp: ENSP00000400022.1:p.Arg371Trp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1111C>T
  hgvsp: ENSP00000350199.2:p.Arg371Trp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1111C>T
  hgvsp: ENSP00000387612.1:p.Arg371Trp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1111C>T
  hgvsp: ENSP00000400065.2:p.Arg371Trp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.248C>T
  hgvsp: ENSP00000392735.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1111C>T
  hgvsp: ENSP00000384194.1:p.Arg371Trp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1111C>T
  hgvsp: ENSP00000348297.2:p.Arg371Trp
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1111C>T
  hgvsp: ENSP00000386071.1:p.Arg371Trp
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg371Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

22-29747217-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747217
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747217
    reference: chr 22
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1098T>C
  hgvsp: ENST00000405198.1:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1098T>C
  hgvsp: ENST00000432560.2:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1098T>C
  hgvsp: ENST00000357586.2:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1098T>C
  hgvsp: ENST00000402502.1:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1098T>C
  hgvsp: ENST00000415447.1:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.235T>C
  hgvsp: ENST00000415756.1:c.235T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1098T>C
  hgvsp: ENST00000421126.1:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1098T>C
  hgvsp: ENST00000317368.7:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1098T>C
  hgvsp: ENST00000356015.2:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp366Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

22-29747225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747225
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747225
    reference: chr 22
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1090G>A
  hgvsp: ENSP00000350199.2:p.Glu364Lys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1090G>A
  hgvsp: ENSP00000384194.1:p.Glu364Lys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1090G>A
  hgvsp: ENSP00000348297.2:p.Glu364Lys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1090G>A
  hgvsp: ENSP00000386071.1:p.Glu364Lys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1090G>A
  hgvsp: ENSP00000319361.7:p.Glu364Lys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.227G>A
  hgvsp: ENSP00000392735.1:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1090G>A
  hgvsp: ENSP00000400022.1:p.Glu364Lys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1090G>A
  hgvsp: ENSP00000387612.1:p.Glu364Lys
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1090G>A
  hgvsp: ENSP00000400065.2:p.Glu364Lys
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu364Lys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

22-29747228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747228
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747228
    reference: chr 22
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1087A>G
  hgvsp: ENSP00000384194.1:p.Thr363Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1087A>G
  hgvsp: ENSP00000350199.2:p.Thr363Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.224A>G
  hgvsp: ENSP00000392735.1:p.Thr76Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1087A>G
  hgvsp: ENSP00000400065.2:p.Thr363Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1087A>G
  hgvsp: ENSP00000386071.1:p.Thr363Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1087A>G
  hgvsp: ENSP00000319361.7:p.Thr363Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1087A>G
  hgvsp: ENSP00000400022.1:p.Thr363Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1087A>G
  hgvsp: ENSP00000348297.2:p.Thr363Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1087A>G
  hgvsp: ENSP00000387612.1:p.Thr363Ala
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr363Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

22-29747231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747231
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747231
    reference: chr 22
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1084G>A
  hgvsp: ENSP00000348297.2:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1084G>A
  hgvsp: ENSP00000350199.2:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.221G>A
  hgvsp: ENSP00000392735.1:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1084G>A
  hgvsp: ENSP00000319361.7:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1084G>A
  hgvsp: ENSP00000384194.1:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1084G>A
  hgvsp: ENSP00000400022.1:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1084G>A
  hgvsp: ENSP00000386071.1:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1084G>A
  hgvsp: ENSP00000400065.2:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1084G>A
  hgvsp: ENSP00000387612.1:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala362Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-29747232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747232
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747232
    reference: chr 22
allele count: 9
allele frequency: 7.41521932570939e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1083C>T
  hgvsp: ENST00000415447.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1083C>T
  hgvsp: ENST00000402502.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1083C>T
  hgvsp: ENST00000356015.2:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1083C>T
  hgvsp: ENST00000432560.2:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1083C>T
  hgvsp: ENST00000421126.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1083C>T
  hgvsp: ENST00000357586.2:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1083C>T
  hgvsp: ENST00000317368.7:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.220C>T
  hgvsp: ENST00000415756.1:c.220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1083C>T
  hgvsp: ENST00000405198.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr361Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

22-29747234-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747234
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747232
    reference: chr 22
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.216_217delAG
  hgvsp: ENSP00000392735.1:p.Glu73ValfsTer66
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1079_1080delAG
  hgvsp: ENSP00000387612.1:p.Glu360ValfsTer66
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1079_1080delAG
  hgvsp: ENSP00000350199.2:p.Glu360ValfsTer66
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1079_1080delAG
  hgvsp: ENSP00000386071.1:p.Glu360ValfsTer66
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1079_1080delAG
  hgvsp: ENSP00000348297.2:p.Glu360ValfsTer66
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1079_1080delAG
  hgvsp: ENSP00000400022.1:p.Glu360ValfsTer66
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1079_1080delAG
  hgvsp: ENSP00000319361.7:p.Glu360ValfsTer66
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1079_1080delAG
  hgvsp: ENSP00000384194.1:p.Glu360ValfsTer66
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1079_1080delAG
  hgvsp: ENSP00000400065.2:p.Glu360ValfsTer66
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu360ValfsTer66
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: ACT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

22-29747254-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29747254
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29747254
    reference: chr 22
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000387612
  ensembl transcript: ENST00000415447
  gene symbol: AP1B1
  hgvsc: ENST00000415447.1:c.1061T>C
  hgvsp: ENSP00000387612.1:p.Val354Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000348297
  ensembl transcript: ENST00000356015
  gene symbol: AP1B1
  hgvsc: ENST00000356015.2:c.1061T>C
  hgvsp: ENSP00000348297.2:p.Val354Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000392735
  ensembl transcript: ENST00000415756
  gene symbol: AP1B1
  hgvsc: ENST00000415756.1:c.198T>C
  hgvsp: ENSP00000392735.1:p.Val67Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400022
  ensembl transcript: ENST00000421126
  gene symbol: AP1B1
  hgvsc: ENST00000421126.1:c.1061T>C
  hgvsp: ENSP00000400022.1:p.Val354Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000386071
  ensembl transcript: ENST00000402502
  gene symbol: AP1B1
  hgvsc: ENST00000402502.1:c.1061T>C
  hgvsp: ENSP00000386071.1:p.Val354Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000400065
  ensembl transcript: ENST00000432560
  gene symbol: AP1B1
  hgvsc: ENST00000432560.2:c.1061T>C
  hgvsp: ENSP00000400065.2:p.Val354Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000384194
  ensembl transcript: ENST00000405198
  gene symbol: AP1B1
  hgvsc: ENST00000405198.1:c.1061T>C
  hgvsp: ENSP00000384194.1:p.Val354Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000319361
  ensembl transcript: ENST00000317368
  gene symbol: AP1B1
  hgvsc: ENST00000317368.7:c.1061T>C
  hgvsp: ENSP00000319361.7:p.Val354Ala
  variant of: http://identifiers.org/hgnc/554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100280
  ensembl protein: ENSP00000350199
  ensembl transcript: ENST00000357586
  gene symbol: AP1B1
  hgvsc: ENST00000357586.2:c.1061T>C
  hgvsp: ENSP00000350199.2:p.Val354Ala
  variant of: http://identifiers.org/hgnc/554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val354Ala
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.253e0

MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

DP
type: SiteQuality
SIO_000300: 1.805655e6

GenotypeQuality
all individuals: 2611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 39284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 9.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2675
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 8
allele frequency: 6.912044237083118e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
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: 16504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

FS
type: SiteQuality
SIO_000300: 1.253e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

DP
type: SiteQuality
SIO_000300: 1.805655e6

GenotypeQuality
all individuals: 2614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1392
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9884
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3484
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 533
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 1.805489e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.563e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.974e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

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

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

GenotypeQuality
all individuals: 2614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3483
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9884
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.80555e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9892
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2672
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3483
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.805912e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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East Asian
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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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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16510
num of homozygotes: 0

Latino
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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FS
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
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Latino
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Other
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
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African
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Other
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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MQ
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DP
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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African
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East Asian
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European (Finnish)
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South Asian
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Other
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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DP
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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FS
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DP
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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MQRankSum
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QD
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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African
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Other
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Latino
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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FS
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DP
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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MQ
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DP
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Latino
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South Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66698
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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Other
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South Asian
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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African
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South Asian
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European (Non-Finnish)
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Other
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Other
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Latino
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African
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South Asian
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European (Finnish)
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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Other
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.378e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.790518e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 3.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.077e0

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.078804018883913e-5
allele num: 66088
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.767495e6

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.073e1

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65960
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

FS
type: SiteQuality
SIO_000300: 2.081e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.207e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

DP
type: SiteQuality
SIO_000300: 1.760399e6

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-5
allele num: 65960
num of homozygotes: 0

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

Latino
type: Population
allele count: 22
allele frequency: 1.925770308123249e-3
allele num: 11424
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.081e0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.760399e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.207e0

QD
type: SiteQuality
SIO_000300: 1.402e1

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522672594938636e-5
allele num: 65674
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

DP
type: SiteQuality
SIO_000300: 1.74047e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

South Asian
type: Population
allele count: 1
allele frequency: 6.156119182467373e-5
allele num: 16244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532848953064165e-5
allele num: 65238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.905e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.705852e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.860580501116348e-4
allele num: 16124
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FS
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DP
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ClippingRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55938123752495e-5
allele num: 64128
num of homozygotes: 0

Latino
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European (Finnish)
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African
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allele num: 10124
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East Asian
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South Asian
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 1
allele frequency: 1.556178026766262e-4
allele num: 6426
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.247816321437484e-4
allele num: 16028
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African
type: Population
allele count: 1
allele frequency: 9.916699722332408e-5
allele num: 10084
num of homozygotes: 0

Other
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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QD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 10882
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10088
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

East Asian
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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.242197253433208e-5
allele num: 16020
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele count: 3
allele frequency: 3.667481662591687e-4
allele num: 8180
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63506
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Latino
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Other
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10760
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.584183511818009e-5
allele num: 63124
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 8.57e-1

MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.585389054473968e-5
allele num: 63076
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.84e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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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: 3
allele frequency: 4.770840622117617e-5
allele num: 62882
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 872
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QD
type: SiteQuality
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele num: 15834
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European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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European (Non-Finnish)
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allele frequency: 1.597035901367063e-5
allele num: 62616
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Latino
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allele frequency: 3.737619136609979e-4
allele num: 10702
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FS
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ReadPosRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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African
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East Asian
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Other
type: Population
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Latino
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European (Non-Finnish)
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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Latino
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South Asian
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East Asian
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.114e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

DP
type: SiteQuality
SIO_000300: 1.311532e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 36

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 3.788654515666598e-3
allele num: 9766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60852
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.276929e6

QD
type: SiteQuality
SIO_000300: 1.598e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60496
num of homozygotes: 0

South Asian
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allele count: 21
allele frequency: 1.349787890474354e-3
allele num: 15558
num of homozygotes: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.272394e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.447e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.661736847352853e-5
allele num: 60178
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.568e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.270941e6

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65104
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: 4
allele frequency: 3.9032006245121e-4
allele num: 10248
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12344
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.344e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 3.588e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.483e1

DP
type: SiteQuality
SIO_000300: 1.736789e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.045052292839903e-5
allele num: 12430
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 3.075e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.829e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.202e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12430
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65132
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

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

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11524
num of homozygotes: 0

Other
type: Population
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65112
num of homozygotes: 0

African
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allele frequency: 9.746588693957115e-5
allele num: 10260
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 30

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65112
num of homozygotes: 0

South Asian
type: Population
allele count: 32
allele frequency: 2.582311168495804e-3
allele num: 12392
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 610
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
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: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535060788407221e-5
allele num: 65144
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.643e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.737847e6

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.178e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

GenotypeQuality
all individuals: 1301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528444349341241e-5
allele num: 65426
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.199e-1

FS
type: SiteQuality
SIO_000300: 8.694000000000001e0

DP
type: SiteQuality
SIO_000300: 1.753557e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.018e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 65

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: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

Latino
type: Population
allele count: 64
allele frequency: 5.544966210362156e-3
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527183872938302e-5
allele num: 65480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.439e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

DP
type: SiteQuality
SIO_000300: 1.761286e6

QD
type: SiteQuality
SIO_000300: 1.171e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.104e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13944
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.648e-1

DP
type: SiteQuality
SIO_000300: 1.758931e6

GenotypeQuality
all individuals: 297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1227
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515059693351918e-5
allele num: 66004
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.247e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.312e0

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.087e1

DP
type: SiteQuality
SIO_000300: 1.772739e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

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

GenotypeQuality
all individuals: 106
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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
all individuals: 237
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GenotypeQuality
all individuals: 601
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.175e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.794429e6

QD
type: SiteQuality
SIO_000300: 1.04e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 1.796076e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004807692307692e-5
allele num: 66560
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.80067e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 47225
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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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050609353424986e-4
allele num: 66628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.805739e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.156e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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bin: 5.75e1
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

DP
type: SiteQuality
SIO_000300: 1.804431e6

QD
type: SiteQuality
SIO_000300: 1.314e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.003121623244087e-5
allele num: 66632
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
allele num: 10394
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.804431e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

QD
type: SiteQuality
SIO_000300: 1.314e1

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

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

East Asian
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allele count: 0
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.002790865168202e-5
allele num: 66646
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.377e0

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.805281e6

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
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

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.715e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: -7.697000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.153e0

DP
type: SiteQuality
SIO_000300: 1.804391e6

FS
type: SiteQuality
SIO_000300: 1.855e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
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

South Asian
type: Population
allele count: 0
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 2.24e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.95e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
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variant carriers: 0

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

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

African
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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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Latino
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allele num: 11578
num of homozygotes: 0

Other
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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 count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.93e0

FS
type: SiteQuality
SIO_000300: 1.893e0

VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

ReadPosRankSum
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SIO_000300: 7.83e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.999880002399952e-5
allele num: 66668
num of homozygotes: 0

East Asian
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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European (Finnish)
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MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

East Asian
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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
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Other
type: Population
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African
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QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e0

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

GenotypeQuality
all individuals: 47502
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
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: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.373e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.033e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

FS
type: SiteQuality
SIO_000300: 6.723e0

DP
type: SiteQuality
SIO_000300: 1.805191e6

MQ
type: SiteQuality
SIO_000300: 5.989e1

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

DP
type: SiteQuality
SIO_000300: 1.805117e6

FS
type: SiteQuality
SIO_000300: 1.663e0

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.417e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

GenotypeQuality
all individuals: 47500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1245
bin: 7.75e1
variant carriers: 0

Latino
type: Population
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.626e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.84e0

QD
type: SiteQuality
SIO_000300: 1.242e1

MQ
type: SiteQuality
SIO_000300: 5.991e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

DP
type: SiteQuality
SIO_000300: 1.80519e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99610253335332e-5
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.43e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.294e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

FS
type: SiteQuality
SIO_000300: 7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.805541e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

GenotypeQuality
all individuals: 1395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2335
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 239
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variant carriers: 0

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

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47510
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 4.832e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.595e0

DP
type: SiteQuality
SIO_000300: 1.804063e6

QD
type: SiteQuality
SIO_000300: 5.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.121e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1